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1. Impact of Risk Factors on COVID-19 Outcomes in Unvaccinated People With Rheumatic Diseases: A Comparative Analysis of Pandemic Epochs Using the COVID-19 Global Rheumatology Alliance Registry

Author: Yazdany, J, Ware, A, Wallace, Z, Bhana, S, Grainger, R, Hachulla, E, Richez, C, Cacoub, P, Hausmann, J, Liew, J, Sirotich, E, Jacobsohn, L, Strangfeld, A, Mateus, E, Hyrich, K, Gossec, L, Carmona, L, Lawson-Tovey, S, Kearsley-Fleet, L, Schaefer, M, Ribeiro, S, Al-Emadi, S, Hasseli, R, Müller-Ladner, U, Specker, C, Schulze-Koops, H, Bernardes, M, Fraga, V, Rodrigues, A, Sparks, J, Ljung, L, Di Giuseppe, D, Tidblad, L, Wise, L, Duarte-García, A, Ugarte-Gil, M, Colunga-Pedraza, I, Martínez-Martínez, M, Alpizar-Rodriguez, D, Xavier, R, Isnardi, C, Pera, M, Pons-Estel, G, Izadi, Z, Gianfrancesco, M, Carrara, G, Scirè, C, Zanetti, A, Machado, P, Wallace, ZS, Hausmann, JS, Liew, JW, Mateus, EF, Hyrich, KL, Ribeiro, SLE, Fraga, VM, Rodrigues, AM, Sparks, JA, Ugarte-Gil, MF, Colunga-Pedraza, IJ, Martínez-Martínez, MU, Xavier, RM, Isnardi, CA, Gianfrancesco, MA, Scirè, CA, Machado, PM, Yazdany, J, Ware, A, Wallace, Z, Bhana, S, Grainger, R, Hachulla, E, Richez, C, Cacoub, P, Hausmann, J, Liew, J, Sirotich, E, Jacobsohn, L, Strangfeld, A, Mateus, E, Hyrich, K, Gossec, L, Carmona, L, Lawson-Tovey, S, Kearsley-Fleet, L, Schaefer, M, Ribeiro, S, Al-Emadi, S, Hasseli, R, Müller-Ladner, U, Specker, C, Schulze-Koops, H, Bernardes, M, Fraga, V, Rodrigues, A, Sparks, J, Ljung, L, Di Giuseppe, D, Tidblad, L, Wise, L, Duarte-García, A, Ugarte-Gil, M, Colunga-Pedraza, I, Martínez-Martínez, M, Alpizar-Rodriguez, D, Xavier, R, Isnardi, C, Pera, M, Pons-Estel, G, Izadi, Z, Gianfrancesco, M, Carrara, G, Scirè, C, Zanetti, A, Machado, P, Wallace, ZS, Hausmann, JS, Liew, JW, Mateus, EF, Hyrich, KL, Ribeiro, SLE, Fraga, VM, Rodrigues, AM, Sparks, JA, Ugarte-Gil, MF, Colunga-Pedraza, IJ, Martínez-Martínez, MU, Xavier, RM, Isnardi, CA, Gianfrancesco, MA, Scirè, CA, and Machado, PM
Abstract: Objective: Approximately one third of individuals worldwide have not received a COVID-19 vaccine. Although studies have investigated risk factors linked to severe COVID-19 among unvaccinated people with rheumatic diseases (RDs), we know less about whether these factors changed as the pandemic progressed. We aimed to identify risk factors associated with severe COVID-19 in unvaccinated individuals in different pandemic epochs corresponding to major variants of concern. Methods: Patients with RDs and COVID-19 were entered into the COVID-19 Global Rheumatology Alliance Registry between March 2020 and June 2022. An ordinal logistic regression model (not hospitalized, hospitalized, and death) was used with date of COVID-19 diagnosis, age, sex, race and/or ethnicity, comorbidities, RD activity, medications, and the human development index (HDI) as covariates. The main analysis included all unvaccinated patients across COVID-19 pandemic epochs; subanalyses stratified patients according to RD types. Results: Among 19,256 unvaccinated people with RDs and COVID-19, those who were older, male, had more comorbidities, used glucocorticoids, had higher disease activity, or lived in lower HDI regions had worse outcomes across epochs. For those with rheumatoid arthritis, sulfasalazine and B-cell–depleting therapy were associated with worse outcomes, and tumor necrosis factor inhibitors were associated with improved outcomes. In those with connective tissue disease or vasculitis, B-cell–depleting therapy was associated with worse outcomes. Conclusion: Risk factors for severe COVID-19 outcomes were similar throughout pandemic epochs in unvaccinated people with RDs. Ongoing efforts, including vaccination, are needed to reduce COVID-19 severity in this population, particularly in those with medical and social vulnerabilities identified in this study.
Published: 2024

2. ERN ReCONNET points to consider for treating patients living with autoimmune rheumatic diseases with antiviral therapies and anti-SARS-CoV-2 antibody products

Author: Talarico, R, Ramirez, G, Barreira, S, Cardamone, C, Triggianese, P, Aguilera, S, Andersen, J, Avcin, T, Benistan, K, Bertsias, G, Bortoluzzi, A, Bouillot, C, Bulina, I, Burmester, G, Callens, S, Carreira, P, Cervera, R, Cutolo, M, Damian, L, Della-Torre, E, Faria, R, Fonseca, J, Galetti, I, Hachulla, E, Iaccarino, L, Jacobsen, S, Khmelinskii, N, Limper, M, Marinello, D, Meyer, A, Moroncini, G, Nagy, G, Olesinska, M, Pamfil, C, Pileckyte, M, Pistello, M, Rednic, S, Richez, C, Romao, V, Schneider, M, Sciascia, S, Scire, C, Simonini, G, Smith, V, Sulli, A, Tani, C, Tas, S, Tincani, A, Vonk, M, Tektonidou, M, Mosca, M, Talarico R., Ramirez G. A., Barreira S. C., Cardamone C., Triggianese P., Aguilera S., Andersen J., Avcin T., Benistan K., Bertsias G., Bortoluzzi A., Bouillot C., Bulina I., Burmester G. R., Callens S., Carreira P. E., Cervera R., Cutolo M., Damian L., Della-Torre E., Faria R., Fonseca J. E., Galetti I., Hachulla E., Iaccarino L., Jacobsen S., Khmelinskii N., Limper M., Marinello D., Meyer A., Moroncini G., Nagy G., Olesinska M., Pamfil C., Pileckyte M., Pistello M., Rednic S., Richez C., Romao V. C., Schneider M., Sciascia S., Scire C. A., Simonini G., Smith V., Sulli A., Tani C., Tas S. W., Tincani A., Vonk M. C., Tektonidou M., Mosca M., Talarico, R, Ramirez, G, Barreira, S, Cardamone, C, Triggianese, P, Aguilera, S, Andersen, J, Avcin, T, Benistan, K, Bertsias, G, Bortoluzzi, A, Bouillot, C, Bulina, I, Burmester, G, Callens, S, Carreira, P, Cervera, R, Cutolo, M, Damian, L, Della-Torre, E, Faria, R, Fonseca, J, Galetti, I, Hachulla, E, Iaccarino, L, Jacobsen, S, Khmelinskii, N, Limper, M, Marinello, D, Meyer, A, Moroncini, G, Nagy, G, Olesinska, M, Pamfil, C, Pileckyte, M, Pistello, M, Rednic, S, Richez, C, Romao, V, Schneider, M, Sciascia, S, Scire, C, Simonini, G, Smith, V, Sulli, A, Tani, C, Tas, S, Tincani, A, Vonk, M, Tektonidou, M, Mosca, M, Talarico R., Ramirez G. A., Barreira S. C., Cardamone C., Triggianese P., Aguilera S., Andersen J., Avcin T., Benistan K., Bertsias G., Bortoluzzi A., Bouillot C., Bulina I., Burmester G. R., Callens S., Carreira P. E., Cervera R., Cutolo M., Damian L., Della-Torre E., Faria R., Fonseca J. E., Galetti I., Hachulla E., Iaccarino L., Jacobsen S., Khmelinskii N., Limper M., Marinello D., Meyer A., Moroncini G., Nagy G., Olesinska M., Pamfil C., Pileckyte M., Pistello M., Rednic S., Richez C., Romao V. C., Schneider M., Sciascia S., Scire C. A., Simonini G., Smith V., Sulli A., Tani C., Tas S. W., Tincani A., Vonk M. C., Tektonidou M., and Mosca M.
Abstract: Recent studies have shown that people who are immunocompromised may inadvertently play a role in spurring the mutations of the virus that create new variants. This is because some immunocompromised individuals remain at risk of getting COVID-19 despite vaccination, experience more severe disease, are susceptible to being chronically infected and remain contagious for longer if they become infected and considering that immunocompromised individuals represent approximately 2% of the overall population, this aspect should be carefully considered. So far, some autoimmune rheumatic disease (ARD) patients with COVID-19 have been treated with antiviral therapies or anti-SARS-CoV-2 antibody products. However, there is no homogeneous approach to these treatment strategies. This issue was addressed within the European Reference Network (ERN) on Rare and Complex Connective Tissue and Musculoskeletal Diseases (ReCONNET) in a discussion among experts and patient's representatives in the context of the rare and complex connective tissue diseases (rCTDs) covered by the Network. ERN ReCONNET is one of the 24 ERNs launched by the European Commission in 2017 with the aim of tackling low prevalence and rare diseases that require highly specialised treatment and promoting concentration of knowledge and resources through virtual networks involving healthcare providers (HCPs) across the European Union (EU). Considering the urgent need to provide guidance not only to the rCTDs community, but also to the whole ARDs community, a multidisciplinary Task Force, including expert clinicians and European Patient Advocacy Group (ePAG) Advocates, was created in the framework of ERN ReCONNET with the aim of developing overarching principles (OP) and points-to-consider (PtC) on a homogenous approach to treat immunocompromised patients with ARDs (with a particular focus on CTDs) affected by COVID-19 using antiviral therapies and anti-SARS-CoV-2 antibody products. The present work reports the final OP
Published: 2023

3. Environmental and societal factors associated with COVID-19-related death in people with rheumatic disease: an observational study

Author: Izadi, Z, Gianfrancesco, M, Schmajuk, G, Jacobsohn, L, Katz, P, Rush, S, Ja, C, Taylor, T, Shidara, K, Danila, M, Wysham, K, Strangfeld, A, Mateus, E, Hyrich, K, Gossec, L, Carmona, L, Lawson-Tovey, S, Kearsley-Fleet, L, Schaefer, M, Al-Emadi, S, Sparks, J, Hsu, T, Patel, N, Wise, L, Gilbert, E, Duarte-Garcia, A, Valenzuela-Almada, M, Ugarte-Gil, M, Ljung, L, Scire, C, Carrara, G, Hachulla, E, Richez, C, Cacoub, P, Thomas, T, Santos, M, Bernardes, M, Hasseli, R, Regierer, A, Schulze-Koops, H, Muller-Ladner, U, Pons-Estel, G, Tanten, R, Nieto, R, Pisoni, C, Tissera, Y, Xavier, R, Lopes Marques, C, Pileggi, G, Robinson, P, Machado, P, Sirotich, E, Liew, J, Hausmann, J, Sufka, P, Grainger, R, Bhana, S, Gore-Massy, M, Wallace, Z, Yazdany, J, Dahou, B, Gomez, G, Roberts, K, Baez, R, Castro Coello, V, Haye Salinas, M, Maldonado, F, Reyes, A, Alle, G, Maldonado Ficco, H, Gobbi, C, Paula, A, Albiero, J, Schmid, M, Cosatti, M, Gamba, M, Leandro, C, Cusa, M, German, N, Bellomio, V, Takashima, L, Pera, M, Cogo, K, Galvez Elkin, M, Medina, M, Savio, V, Rojas Tessel, R, Alamino, R, Werner, M, Ornella, S, Casalla, L, de la Vega, M, Severina, M, Garcia, M, Gonzalez Lucero, L, Romeo, C, Moyano, S, Barbich, T, Bertoli, A, Banos, A, Petruzzelli, S, Matellan, C, Conti, S, Lazaro, M, Rodriguez Gil, G, Risueno, F, Quaglia, M, Scafati, J, Cuchiaro, N, Rebak, J, Pineda, S, Calvo, M, Picco, E, Yanzi, J, Maid, P, Guaglianone, D, Morbiducci, J, Porta, S, Herscovich, N, Velasco Zamora, J, Kisluk, B, Castanos Menescardi, M, Gallo, R, Martire, M, Maldini, C, Goizueta, C, de la Vega Fernandez, S, Aeschlimann, C, Subils, G, Rath, E, Piette, Y, Devinck, M, Maeyaert, B, Machado Ribeiro, F, Euzebio Ribeiro, S, Pinheiro, M, Ibanez, S, Chassin Trubert, A, Dong, L, Cajas, L, Baresic, M, Anic, B, Culo, M, Pavelic, T, Stranski, K, Karanovic, B, Vencovsky, J, Pichova, M, Filkova, M, Hamoud, H, Vassilopoulos, D, Guzman Melgar, G, So, H, Kiraly, M, Vojdanian, M, Balbir Gurman, A, Abutiban, F, Zepa, J, Bulina, I, Bukauskiene, L, Zazueta Montiel, B, Castillo Ortiz, A, Zamora Tehozol, E, Vega Morales, D, Cervantes Rosete, D, Martin Nares, E, Rodriguez Reyna, T, Rull Gabayet, M, Alpizar Rodriguez, D, Irazoque, F, Jimenez, X, Geurts van Bon, L, Zijlstra, T, Hoekstra, M, Al Adhoubi, N, Salim, B, Giraldo, E, Salinas, A, Ugarte Gil, M, Nowakowski, J, Conway, R, Flood, R, Mccarthy, G, Felea, I, Filipescu, I, Rednic, S, Groseanu, L, Tamas, M, Mlynarikova, V, Skamlova, M, Zlnay, M, Micekova, D, Capova, L, Macejova, Z, Stenova, E, Raffayova, H, Belakova, G, Strakova, E, Sencarova, M, Zlnayova, S, Sabova, A, Spisakova, D, Oetterova, M, Lukacova, O, Bakosova, M, Hocevar, A, de la Torre Rubio, N, Alegre Sancho, J, Corteguera Coro, M, Cobeta Garcia, J, Torres Martin, M, Campos, J, Gomez Puerta, J, Yardimci, G, Akar, S, Icacan, O, Celik, S, Vasylets, V, Yeoh, S, Vandevelde, C, Dunt, S, Leeder, J, Macphie, E, Salerno, R, Graver, C, Williams, K, O'Reilly, S, Devine, K, Tyler, J, Warner, E, Pilcher, J, Patel, S, Nikiphorou, E, Chadwick, L, Jones, C, Harrison, B, Thornton, L, O'Kane, D, Fusi, L, Low, A, Horton, S, Jatwani, S, Baig, S, Bajwa, H, Berglund, V, Dahle, A, Dorman, W, Hargrove, J, Hilton, M, Lebedoff, N, Leonard, S, Morgan, J, Pfeifer, E, Skemp, A, Wilson, J, Wolff, A, Cepeda, E, Todd, D, Hare, D, Calabrese, C, Adams, C, Khosroshahi, A, Kilian, A, White, D, Winter, M, Fields, T, Siegel, C, Daver, N, Harvey, M, Kramer, N, Lamore, C, Hogarty, S, Yeter, K, Siddique, F, Ban, B, Tanner, T, Ruderman, E, Davis, W, Quinet, R, Scopelitis, E, Toribio, K, Webb Detiege, T, Zakem, J, Abbass, K, Kepecs, G, Miranda, L, Guma, M, Haikal, A, Mody, S, Mueller, D, Jayatilleke, A, Zell, J, Bays, A, Dao, K, Ezzati, F, Parks, D, Karp, D, Quiceno, G, Izadi Z., Gianfrancesco M. A., Schmajuk G., Jacobsohn L., Katz P., Rush S., Ja C., Taylor T., Shidara K., Danila M. I., Wysham K. D., Strangfeld A., Mateus E. F., Hyrich K. L., Gossec L., Carmona L., Lawson-Tovey S., Kearsley-Fleet L., Schaefer M., Al-Emadi S., Sparks J. A., Hsu T. Y. -T., Patel N. J., Wise L., Gilbert E., Duarte-Garcia A., Valenzuela-Almada M. O., Ugarte-Gil M. F., Ljung L., Scire C. A., Carrara G., Hachulla E., Richez C., Cacoub P., Thomas T., Santos M. J., Bernardes M., Hasseli R., Regierer A., Schulze-Koops H., Muller-Ladner U., Pons-Estel G., Tanten R., Nieto R. E., Pisoni C. N., Tissera Y. S., Xavier R., Lopes Marques C. D., Pileggi G. C. S., Robinson P. C., Machado P. M., Sirotich E., Liew J. W., Hausmann J. S., Sufka P., Grainger R., Bhana S., Gore-Massy M., Wallace Z. S., Yazdany J., Dahou B., Gomez G., Roberts K., Baez R. M., Castro Coello V. V., Haye Salinas M. J., Maldonado F. N., Reyes A. A., Alle G., Maldonado Ficco H., Nieto R., Gobbi C., Tissera Y., Pisoni C., Paula A., Albiero J. A., Schmid M. M., Cosatti M., Gamba M. J., Leandro C., Cusa M. A., German N., Bellomio V., Takashima L., Pera M., Cogo K., Galvez Elkin M. S., Medina M. A., Savio V., Rojas Tessel R., Alamino R. P., Werner M. L., Ornella S., Casalla L., de la Vega M., Severina M., Garcia M., Gonzalez Lucero L., Romeo C., Moyano S., Barbich T., Bertoli A., Banos A., Petruzzelli S., Matellan C., Conti S., Lazaro M. A., Rodriguez Gil G. F., Risueno F., Quaglia M. I., Scafati J., Cuchiaro N. L., Rebak J. E., Pineda S. I., Calvo M. E., Picco E., Yanzi J. G., Maid P., Guaglianone D., Morbiducci J. S., Porta S., Herscovich N., Velasco Zamora J. L., Kisluk B., Castanos Menescardi M. S., Gallo R., Martire M. V., Maldini C., Goizueta C., de la Vega Fernandez S. S., Aeschlimann C., Subils G., Rath E., Piette Y., Devinck M., Maeyaert B., Machado Ribeiro F., Euzebio Ribeiro S. L., Pinheiro M., Ibanez S., Chassin Trubert A. -M., Dong L., Cajas L., Baresic M., Anic B., Culo M. -I., Pavelic T. A., Stranski K. K., Karanovic B., Vencovsky J., Pichova M., Filkova M., Hamoud H., Vassilopoulos D., Guzman Melgar G. M., So H., Kiraly M., Vojdanian M., Balbir Gurman A., Abutiban F., Zepa J., Bulina I., Bukauskiene L., Zazueta Montiel B. E., Castillo Ortiz A. A., Zamora Tehozol E., Vega Morales D., Cervantes Rosete D., Martin Nares E., Rodriguez Reyna T. S., Rull Gabayet M., Alpizar Rodriguez D., Irazoque F., Jimenez X., Geurts van Bon L., Zijlstra T., Hoekstra M., Al Adhoubi N., Salim B., Giraldo E., Salinas A., Ugarte Gil M., Nowakowski J., Conway R., Flood R., McCarthy G., Felea I., Filipescu I., Rednic S., Groseanu L., Tamas M. M., Mlynarikova V., Skamlova M., Zlnay M., Micekova D., Capova L., Macejova Z., Stenova E., Raffayova H., Belakova G., Strakova E., Sencarova M., Zlnayova S., Sabova A., Spisakova D., Oetterova M., Lukacova O., Bakosova M., Hocevar A., de la Torre Rubio N., Alegre Sancho J. J., Corteguera Coro M., Cobeta Garcia J. C., Torres Martin M. C., Campos J., Gomez Puerta J. A., Yardimci G. K., Akar S., Icacan O. C., CELIK S., Vasylets V., Yeoh S. -A., Vandevelde C., Dunt S., Leeder J., Macphie E., Salerno R., Graver C., Williams K., O'Reilly S., Devine K., Tyler J., Warner E., Pilcher J., Patel S., Nikiphorou E., Chadwick L., Jones C. M., Harrison B., Thornton L., O'Kane D., Fusi L., Low A., Horton S., Jatwani S., Baig S., Bajwa H., Berglund V., Dahle A., Dorman W., Hargrove J., Hilton M., Lebedoff N., Leonard S., Morgan J., Pfeifer E., Skemp A., Wilson J., Wolff A., Cepeda E., Todd D., Hare D., Calabrese C., Adams C., Khosroshahi A., Kilian A., White D., Winter M., Fields T., Siegel C., Daver N., Harvey M., Kramer N., Lamore C., Hogarty S., Yeter K., Siddique F., Ban B., Tanner T., Ruderman E., Davis W., Quinet R., Scopelitis E., Toribio K., Webb Detiege T., Zakem J., Abbass K., Kepecs G., Miranda L., Guma M., Haikal A., Mody S., Mueller D., Jayatilleke A., Zell J., Bays A., Dao K., Ezzati F., Parks D., Karp D., Quiceno G., Izadi, Z, Gianfrancesco, M, Schmajuk, G, Jacobsohn, L, Katz, P, Rush, S, Ja, C, Taylor, T, Shidara, K, Danila, M, Wysham, K, Strangfeld, A, Mateus, E, Hyrich, K, Gossec, L, Carmona, L, Lawson-Tovey, S, Kearsley-Fleet, L, Schaefer, M, Al-Emadi, S, Sparks, J, Hsu, T, Patel, N, Wise, L, Gilbert, E, Duarte-Garcia, A, Valenzuela-Almada, M, Ugarte-Gil, M, Ljung, L, Scire, C, Carrara, G, Hachulla, E, Richez, C, Cacoub, P, Thomas, T, Santos, M, Bernardes, M, Hasseli, R, Regierer, A, Schulze-Koops, H, Muller-Ladner, U, Pons-Estel, G, Tanten, R, Nieto, R, Pisoni, C, Tissera, Y, Xavier, R, Lopes Marques, C, Pileggi, G, Robinson, P, Machado, P, Sirotich, E, Liew, J, Hausmann, J, Sufka, P, Grainger, R, Bhana, S, Gore-Massy, M, Wallace, Z, Yazdany, J, Dahou, B, Gomez, G, Roberts, K, Baez, R, Castro Coello, V, Haye Salinas, M, Maldonado, F, Reyes, A, Alle, G, Maldonado Ficco, H, Gobbi, C, Paula, A, Albiero, J, Schmid, M, Cosatti, M, Gamba, M, Leandro, C, Cusa, M, German, N, Bellomio, V, Takashima, L, Pera, M, Cogo, K, Galvez Elkin, M, Medina, M, Savio, V, Rojas Tessel, R, Alamino, R, Werner, M, Ornella, S, Casalla, L, de la Vega, M, Severina, M, Garcia, M, Gonzalez Lucero, L, Romeo, C, Moyano, S, Barbich, T, Bertoli, A, Banos, A, Petruzzelli, S, Matellan, C, Conti, S, Lazaro, M, Rodriguez Gil, G, Risueno, F, Quaglia, M, Scafati, J, Cuchiaro, N, Rebak, J, Pineda, S, Calvo, M, Picco, E, Yanzi, J, Maid, P, Guaglianone, D, Morbiducci, J, Porta, S, Herscovich, N, Velasco Zamora, J, Kisluk, B, Castanos Menescardi, M, Gallo, R, Martire, M, Maldini, C, Goizueta, C, de la Vega Fernandez, S, Aeschlimann, C, Subils, G, Rath, E, Piette, Y, Devinck, M, Maeyaert, B, Machado Ribeiro, F, Euzebio Ribeiro, S, Pinheiro, M, Ibanez, S, Chassin Trubert, A, Dong, L, Cajas, L, Baresic, M, Anic, B, Culo, M, Pavelic, T, Stranski, K, Karanovic, B, Vencovsky, J, Pichova, M, Filkova, M, Hamoud, H, Vassilopoulos, D, Guzman Melgar, G, So, H, Kiraly, M, Vojdanian, M, Balbir Gurman, A, Abutiban, F, Zepa, J, Bulina, I, Bukauskiene, L, Zazueta Montiel, B, Castillo Ortiz, A, Zamora Tehozol, E, Vega Morales, D, Cervantes Rosete, D, Martin Nares, E, Rodriguez Reyna, T, Rull Gabayet, M, Alpizar Rodriguez, D, Irazoque, F, Jimenez, X, Geurts van Bon, L, Zijlstra, T, Hoekstra, M, Al Adhoubi, N, Salim, B, Giraldo, E, Salinas, A, Ugarte Gil, M, Nowakowski, J, Conway, R, Flood, R, Mccarthy, G, Felea, I, Filipescu, I, Rednic, S, Groseanu, L, Tamas, M, Mlynarikova, V, Skamlova, M, Zlnay, M, Micekova, D, Capova, L, Macejova, Z, Stenova, E, Raffayova, H, Belakova, G, Strakova, E, Sencarova, M, Zlnayova, S, Sabova, A, Spisakova, D, Oetterova, M, Lukacova, O, Bakosova, M, Hocevar, A, de la Torre Rubio, N, Alegre Sancho, J, Corteguera Coro, M, Cobeta Garcia, J, Torres Martin, M, Campos, J, Gomez Puerta, J, Yardimci, G, Akar, S, Icacan, O, Celik, S, Vasylets, V, Yeoh, S, Vandevelde, C, Dunt, S, Leeder, J, Macphie, E, Salerno, R, Graver, C, Williams, K, O'Reilly, S, Devine, K, Tyler, J, Warner, E, Pilcher, J, Patel, S, Nikiphorou, E, Chadwick, L, Jones, C, Harrison, B, Thornton, L, O'Kane, D, Fusi, L, Low, A, Horton, S, Jatwani, S, Baig, S, Bajwa, H, Berglund, V, Dahle, A, Dorman, W, Hargrove, J, Hilton, M, Lebedoff, N, Leonard, S, Morgan, J, Pfeifer, E, Skemp, A, Wilson, J, Wolff, A, Cepeda, E, Todd, D, Hare, D, Calabrese, C, Adams, C, Khosroshahi, A, Kilian, A, White, D, Winter, M, Fields, T, Siegel, C, Daver, N, Harvey, M, Kramer, N, Lamore, C, Hogarty, S, Yeter, K, Siddique, F, Ban, B, Tanner, T, Ruderman, E, Davis, W, Quinet, R, Scopelitis, E, Toribio, K, Webb Detiege, T, Zakem, J, Abbass, K, Kepecs, G, Miranda, L, Guma, M, Haikal, A, Mody, S, Mueller, D, Jayatilleke, A, Zell, J, Bays, A, Dao, K, Ezzati, F, Parks, D, Karp, D, Quiceno, G, Izadi Z., Gianfrancesco M. A., Schmajuk G., Jacobsohn L., Katz P., Rush S., Ja C., Taylor T., Shidara K., Danila M. I., Wysham K. D., Strangfeld A., Mateus E. F., Hyrich K. L., Gossec L., Carmona L., Lawson-Tovey S., Kearsley-Fleet L., Schaefer M., Al-Emadi S., Sparks J. A., Hsu T. Y. -T., Patel N. J., Wise L., Gilbert E., Duarte-Garcia A., Valenzuela-Almada M. O., Ugarte-Gil M. F., Ljung L., Scire C. A., Carrara G., Hachulla E., Richez C., Cacoub P., Thomas T., Santos M. J., Bernardes M., Hasseli R., Regierer A., Schulze-Koops H., Muller-Ladner U., Pons-Estel G., Tanten R., Nieto R. E., Pisoni C. N., Tissera Y. S., Xavier R., Lopes Marques C. D., Pileggi G. C. S., Robinson P. C., Machado P. M., Sirotich E., Liew J. W., Hausmann J. S., Sufka P., Grainger R., Bhana S., Gore-Massy M., Wallace Z. S., Yazdany J., Dahou B., Gomez G., Roberts K., Baez R. M., Castro Coello V. V., Haye Salinas M. J., Maldonado F. N., Reyes A. A., Alle G., Maldonado Ficco H., Nieto R., Gobbi C., Tissera Y., Pisoni C., Paula A., Albiero J. A., Schmid M. M., Cosatti M., Gamba M. J., Leandro C., Cusa M. A., German N., Bellomio V., Takashima L., Pera M., Cogo K., Galvez Elkin M. S., Medina M. A., Savio V., Rojas Tessel R., Alamino R. P., Werner M. L., Ornella S., Casalla L., de la Vega M., Severina M., Garcia M., Gonzalez Lucero L., Romeo C., Moyano S., Barbich T., Bertoli A., Banos A., Petruzzelli S., Matellan C., Conti S., Lazaro M. A., Rodriguez Gil G. F., Risueno F., Quaglia M. I., Scafati J., Cuchiaro N. L., Rebak J. E., Pineda S. I., Calvo M. E., Picco E., Yanzi J. G., Maid P., Guaglianone D., Morbiducci J. S., Porta S., Herscovich N., Velasco Zamora J. L., Kisluk B., Castanos Menescardi M. S., Gallo R., Martire M. V., Maldini C., Goizueta C., de la Vega Fernandez S. S., Aeschlimann C., Subils G., Rath E., Piette Y., Devinck M., Maeyaert B., Machado Ribeiro F., Euzebio Ribeiro S. L., Pinheiro M., Ibanez S., Chassin Trubert A. -M., Dong L., Cajas L., Baresic M., Anic B., Culo M. -I., Pavelic T. A., Stranski K. K., Karanovic B., Vencovsky J., Pichova M., Filkova M., Hamoud H., Vassilopoulos D., Guzman Melgar G. M., So H., Kiraly M., Vojdanian M., Balbir Gurman A., Abutiban F., Zepa J., Bulina I., Bukauskiene L., Zazueta Montiel B. E., Castillo Ortiz A. A., Zamora Tehozol E., Vega Morales D., Cervantes Rosete D., Martin Nares E., Rodriguez Reyna T. S., Rull Gabayet M., Alpizar Rodriguez D., Irazoque F., Jimenez X., Geurts van Bon L., Zijlstra T., Hoekstra M., Al Adhoubi N., Salim B., Giraldo E., Salinas A., Ugarte Gil M., Nowakowski J., Conway R., Flood R., McCarthy G., Felea I., Filipescu I., Rednic S., Groseanu L., Tamas M. M., Mlynarikova V., Skamlova M., Zlnay M., Micekova D., Capova L., Macejova Z., Stenova E., Raffayova H., Belakova G., Strakova E., Sencarova M., Zlnayova S., Sabova A., Spisakova D., Oetterova M., Lukacova O., Bakosova M., Hocevar A., de la Torre Rubio N., Alegre Sancho J. J., Corteguera Coro M., Cobeta Garcia J. C., Torres Martin M. C., Campos J., Gomez Puerta J. A., Yardimci G. K., Akar S., Icacan O. C., CELIK S., Vasylets V., Yeoh S. -A., Vandevelde C., Dunt S., Leeder J., Macphie E., Salerno R., Graver C., Williams K., O'Reilly S., Devine K., Tyler J., Warner E., Pilcher J., Patel S., Nikiphorou E., Chadwick L., Jones C. M., Harrison B., Thornton L., O'Kane D., Fusi L., Low A., Horton S., Jatwani S., Baig S., Bajwa H., Berglund V., Dahle A., Dorman W., Hargrove J., Hilton M., Lebedoff N., Leonard S., Morgan J., Pfeifer E., Skemp A., Wilson J., Wolff A., Cepeda E., Todd D., Hare D., Calabrese C., Adams C., Khosroshahi A., Kilian A., White D., Winter M., Fields T., Siegel C., Daver N., Harvey M., Kramer N., Lamore C., Hogarty S., Yeter K., Siddique F., Ban B., Tanner T., Ruderman E., Davis W., Quinet R., Scopelitis E., Toribio K., Webb Detiege T., Zakem J., Abbass K., Kepecs G., Miranda L., Guma M., Haikal A., Mody S., Mueller D., Jayatilleke A., Zell J., Bays A., Dao K., Ezzati F., Parks D., Karp D., and Quiceno G.
Published: 2022

4. Factors associated with severe COVID-19 in people with idiopathic inflammatory myopathy: results from the COVID-19 Global Rheumatology Alliance physician-reported registry

Author: Yeoh, S, Gianfrancesco, M, Lawson-Tovey, S, Hyrich, K, Strangfeld, A, Gossec, L, Carmona, L, Mateus, E, Schafer, M, Richez, C, Hachulla, E, Holmqvist, M, Scire, C, Lorenz, H, Voll, R, Hasseli, R, Jayatilleke, A, Hsu, T, D'Silva, K, Pimentel-Quiroz, V, Vasquez Del Mercado, M, Shinjo, S, Neto, E, Junior, L, De Oliveira E Silva Montandon, A, Pons-Estel, G, Ornella, S, D'Angelo Exeni, M, Velozo, E, Jordan, P, Sirotich, E, Hausmann, J, Liew, J, Jacobsohn, L, Gore-Massy, M, Sufka, P, Grainger, R, Bhana, S, Wallace, Z, Robinson, P, Yazdany, J, Machado, P, Yeoh S. -A., Gianfrancesco M., Lawson-Tovey S., Hyrich K. L., Strangfeld A., Gossec L., Carmona L., Mateus E. F., Schafer M., Richez C., Hachulla E., Holmqvist M., Scire C. A., Lorenz H. -M., Voll R. E., Hasseli R., Jayatilleke A., Hsu T. Y. -T., D'Silva K. M., Pimentel-Quiroz V. R., Vasquez Del Mercado M., Shinjo S. K., Neto E. T. D. R., Junior L. F. D. R., De Oliveira E Silva Montandon A. C., Pons-Estel G. J., Ornella S., D'Angelo Exeni M. E., Velozo E., Jordan P., Sirotich E., Hausmann J. S., Liew J. W., Jacobsohn L., Gore-Massy M., Sufka P., Grainger R., Bhana S., Wallace Z., Robinson P. C., Yazdany J., MacHado P. M., Yeoh, S, Gianfrancesco, M, Lawson-Tovey, S, Hyrich, K, Strangfeld, A, Gossec, L, Carmona, L, Mateus, E, Schafer, M, Richez, C, Hachulla, E, Holmqvist, M, Scire, C, Lorenz, H, Voll, R, Hasseli, R, Jayatilleke, A, Hsu, T, D'Silva, K, Pimentel-Quiroz, V, Vasquez Del Mercado, M, Shinjo, S, Neto, E, Junior, L, De Oliveira E Silva Montandon, A, Pons-Estel, G, Ornella, S, D'Angelo Exeni, M, Velozo, E, Jordan, P, Sirotich, E, Hausmann, J, Liew, J, Jacobsohn, L, Gore-Massy, M, Sufka, P, Grainger, R, Bhana, S, Wallace, Z, Robinson, P, Yazdany, J, Machado, P, Yeoh S. -A., Gianfrancesco M., Lawson-Tovey S., Hyrich K. L., Strangfeld A., Gossec L., Carmona L., Mateus E. F., Schafer M., Richez C., Hachulla E., Holmqvist M., Scire C. A., Lorenz H. -M., Voll R. E., Hasseli R., Jayatilleke A., Hsu T. Y. -T., D'Silva K. M., Pimentel-Quiroz V. R., Vasquez Del Mercado M., Shinjo S. K., Neto E. T. D. R., Junior L. F. D. R., De Oliveira E Silva Montandon A. C., Pons-Estel G. J., Ornella S., D'Angelo Exeni M. E., Velozo E., Jordan P., Sirotich E., Hausmann J. S., Liew J. W., Jacobsohn L., Gore-Massy M., Sufka P., Grainger R., Bhana S., Wallace Z., Robinson P. C., Yazdany J., and MacHado P. M.
Abstract: Objectives To investigate factors associated with severe COVID-19 in people with idiopathic inflammatory myopathy (IIM). Methods Demographic data, clinical characteristics and COVID-19 outcome severity of adults with IIM were obtained from the COVID-19 Global Rheumatology Alliance physician-reported registry. A 3-point ordinal COVID-19 severity scale was defined: (1) no hospitalisation, (2) hospitalisation (and no death) and (3) death. ORs were estimated using multivariable ordinal logistic regression. Sensitivity analyses were performed using a 4-point ordinal scale: (1) no hospitalisation, (2) hospitalisation with no oxygen (and no death), (3) hospitalisation with oxygen/ventilation (and no death) and 4) death. Results Of 348 patients, 48% were not hospitalised, 39% were hospitalised (and did not die) and 13% died. Older age (OR=1.59/decade, 95% CI 1.31 to 1.91), high disease activity (OR=3.50, 95% CI 1.25 to 9.83; vs remission), ≥2 comorbidities (OR=2.63, 95% CI 1.39 to 4.98; vs none), prednisolone-equivalent dose >7.5 mg/day (OR=2.40, 95% CI 1.09 to 5.28; vs no intake) and exposure to rituximab (OR=2.71, 95% CI 1.28 to 5.72; vs conventional synthetic disease-modifying antirheumatic drugs only) were independently associated with severe COVID-19. In addition to these variables, in the sensitivity analyses, male sex (OR range: 1.65-1.83; vs female) was also significantly associated with severe outcomes, while COVID-19 diagnosis after 1 October 2020 (OR range: 0.51-0.59; vs on/before 15 June 2020) was significantly associated with less severe outcomes, but these associations were not significant in the main model (OR=1.57, 95% CI 0.95 to 2.59; and OR=0.61, 95% CI 0.37 to 1.00; respectively). Conclusions This is the first large registry data on outcomes of COVID-19 in people with IIM. Older age, male sex, higher comorbidity burden, high disease activity, prednisolone-equivalent dose >7.5 mg/day and rituximab exposure were associated with severe COVID-19. These
Published: 2022

5. The added value of a European Reference Network on rare and complex connective tissue and musculoskeletal diseases: insights after the first 5 years of the ERN ReCONNET

Author: Talarico, R, Aguilera, S, Alexander, T, Amoura, Z, Andersen, J, Arnaud, L, Avcin, T, Marsal Barril, S, Beretta, L, Bombardieri, S, Bortoluzzi, A, Bouillot, C, Bulina, I, Burmester, G, Cannizzo, S, Cavagna, L, Chaigne, B, Cornet, A, Corti, P, Costedoat-Chalumeau, N, Davidsone, Z, Doria, A, Fenech, C, Ferraris, A, Fischer-Betz, R, Fonseca, J, Frank, C, Gaglioti, A, Galetti, I, Guimaraes, V, Hachulla, E, Holmner, M, Houssiau, F, Iaccarino, L, Jacobsen, S, Limper, M, Malfait, F, Mariette, X, Marinello, D, Martin, T, Matthews, L, Matucci-Cerinic, M, Meyer, A, Milas-Ahic, J, Moinzadeh, P, Montecucco, C, Mouthon, L, Muller-Ladner, U, Nagy, G, Patarata, E, Pileckyte, M, Pruunsild, C, Rednic, S, Romao, V, Schneider, M, Scire, C, Smith, V, Sulli, A, Tamirou, F, Tani, C, Taruscio, D, Taulaigo, A, Tincani, A, Ticciati, S, Turchetti, G, van Hagen, P, van Laar, J, Vieira, A, de Vries-Bouwstra, J, Zschocke, J, Cutolo, M, Mosca, M, Talarico R., Aguilera S., Alexander T., Amoura Z., Andersen J., Arnaud L., Avcin T., Marsal Barril S., Beretta L., Bombardieri S., Bortoluzzi A., Bouillot C., Bulina I., Burmester G. R., Cannizzo S., Cavagna L., Chaigne B., Cornet A., Corti P., Costedoat-Chalumeau N., Davidsone Z., Doria A., Fenech C., Ferraris A., Fischer-Betz R., Fonseca J. E., Frank C., Gaglioti A., Galetti I., Guimaraes V., Hachulla E., Holmner M., Houssiau F., Iaccarino L., Jacobsen S., Limper M., Malfait F., Mariette X., Marinello D., Martin T., Matthews L., Matucci-Cerinic M., Meyer A., Milas-Ahic J., Moinzadeh P., Montecucco C., Mouthon L., Muller-Ladner U., Nagy G., Patarata E., Pileckyte M., Pruunsild C., Rednic S., Romao V. C., Schneider M., Scire C. A., Smith V., Sulli A., Tamirou F., Tani C., Taruscio D., Taulaigo A. V., Tincani A., Ticciati S., Turchetti G., van Hagen P. M., van Laar J. M., Vieira A., de Vries-Bouwstra J. K., Zschocke J., Cutolo M., Mosca M., Talarico, R, Aguilera, S, Alexander, T, Amoura, Z, Andersen, J, Arnaud, L, Avcin, T, Marsal Barril, S, Beretta, L, Bombardieri, S, Bortoluzzi, A, Bouillot, C, Bulina, I, Burmester, G, Cannizzo, S, Cavagna, L, Chaigne, B, Cornet, A, Corti, P, Costedoat-Chalumeau, N, Davidsone, Z, Doria, A, Fenech, C, Ferraris, A, Fischer-Betz, R, Fonseca, J, Frank, C, Gaglioti, A, Galetti, I, Guimaraes, V, Hachulla, E, Holmner, M, Houssiau, F, Iaccarino, L, Jacobsen, S, Limper, M, Malfait, F, Mariette, X, Marinello, D, Martin, T, Matthews, L, Matucci-Cerinic, M, Meyer, A, Milas-Ahic, J, Moinzadeh, P, Montecucco, C, Mouthon, L, Muller-Ladner, U, Nagy, G, Patarata, E, Pileckyte, M, Pruunsild, C, Rednic, S, Romao, V, Schneider, M, Scire, C, Smith, V, Sulli, A, Tamirou, F, Tani, C, Taruscio, D, Taulaigo, A, Tincani, A, Ticciati, S, Turchetti, G, van Hagen, P, van Laar, J, Vieira, A, de Vries-Bouwstra, J, Zschocke, J, Cutolo, M, Mosca, M, Talarico R., Aguilera S., Alexander T., Amoura Z., Andersen J., Arnaud L., Avcin T., Marsal Barril S., Beretta L., Bombardieri S., Bortoluzzi A., Bouillot C., Bulina I., Burmester G. R., Cannizzo S., Cavagna L., Chaigne B., Cornet A., Corti P., Costedoat-Chalumeau N., Davidsone Z., Doria A., Fenech C., Ferraris A., Fischer-Betz R., Fonseca J. E., Frank C., Gaglioti A., Galetti I., Guimaraes V., Hachulla E., Holmner M., Houssiau F., Iaccarino L., Jacobsen S., Limper M., Malfait F., Mariette X., Marinello D., Martin T., Matthews L., Matucci-Cerinic M., Meyer A., Milas-Ahic J., Moinzadeh P., Montecucco C., Mouthon L., Muller-Ladner U., Nagy G., Patarata E., Pileckyte M., Pruunsild C., Rednic S., Romao V. C., Schneider M., Scire C. A., Smith V., Sulli A., Tamirou F., Tani C., Taruscio D., Taulaigo A. V., Tincani A., Ticciati S., Turchetti G., van Hagen P. M., van Laar J. M., Vieira A., de Vries-Bouwstra J. K., Zschocke J., Cutolo M., and Mosca M.
Abstract: In order to address the main challenges related to the rare diseases (RDs) the European Commission launched the European Reference Networks (ERNs), virtual networks involving healthcare providers (HCPs) across Europe. The mission of the ERNs is to tackle low prevalence and RDs that require highly specialised treatment and a concentration of knowledge and resources. In fact, ERNs offer the potential to give patients and healthcare professionals across the EU access to the best expertise and timely exchange of lifesaving knowledge, trying to make the knowledge travelling more than patients. For this reason, ERNs were established as concrete European infrastructures, and this is particularly crucial in the framework of rare and complex diseases in which no country alone has the whole knowledge and capacity to treat all types of patients. It has been five years since their kick-off launch in Vilnius in 2017. The 24 ERNs have been intensively working on different transversal areas, including patient management, education, clinical practice guidelines, patients' care pathways and many other fundamental topics. The present work is therefore aimed not only at reporting a summary of the main activities and milestones reached so far, but also at celebrating the first 5 years of the ERN on Rare and Complex Connective Tissue and Musculo-skeletal Diseases (ReCONNET), in which the members of the network built together one of the 24 infrastructures that are hopefully going to change the scenario of rare diseases across the EU.
Published: 2022

6. ERN ReCONNET points to consider for treating patients living with autoimmune rheumatic diseases with antiviral therapies and anti-SARS-CoV-2 antibody products

Author: Talarico, R.R. Ramirez, G.A. Barreira, S.C. Cardamone, C. Triggianese, P. Aguilera, S. Andersen, J. Avcin, T. Benistan, K. Bertsias, G. Bortoluzzi, A. Bouillot, C. Bulina, I. Burmester, G.R. Callens, S. Carreira, P.E. Cervera, R. Cutolo, M. Damian, L. Torre, E.D. Faria, R. Fonseca, J.E. Galetti, I. Hachulla, E. Iaccarino, L. Jacobsen, S. Khmelinskii, N. Limper, M. Marinello, D. Meyer, A. Moroncini, G. Nagy, G. Olesinska, M. Pamfil, C. Pileckyte, M. Pistello, M. Rednic, S. Richez, C. Romão, V.C. Schneider, M. Sciascia, S. Scirè, C.A. Simonini, G. Smith, V. Sulli, A. Tani, C. Tas, S.W. Tincani, A. Vonk, M.C. Tektonidou, M. Mosca, M. and Talarico, R.R. Ramirez, G.A. Barreira, S.C. Cardamone, C. Triggianese, P. Aguilera, S. Andersen, J. Avcin, T. Benistan, K. Bertsias, G. Bortoluzzi, A. Bouillot, C. Bulina, I. Burmester, G.R. Callens, S. Carreira, P.E. Cervera, R. Cutolo, M. Damian, L. Torre, E.D. Faria, R. Fonseca, J.E. Galetti, I. Hachulla, E. Iaccarino, L. Jacobsen, S. Khmelinskii, N. Limper, M. Marinello, D. Meyer, A. Moroncini, G. Nagy, G. Olesinska, M. Pamfil, C. Pileckyte, M. Pistello, M. Rednic, S. Richez, C. Romão, V.C. Schneider, M. Sciascia, S. Scirè, C.A. Simonini, G. Smith, V. Sulli, A. Tani, C. Tas, S.W. Tincani, A. Vonk, M.C. Tektonidou, M. Mosca, M.
Abstract: Recent studies have shown that people who are immunocompromised may inadvertently play a role in spurring the mutations of the virus that create new variants. This is because some immunocompromised individuals remain at risk of getting COVID-19 despite vaccination, experience more severe disease, are susceptible to being chronically infected and remain contagious for longer if they become infected and considering that immunocompromised individuals represent approximately 2% of the overall population, this aspect should be carefully considered. So far, some autoimmune rheumatic disease (ARD) patients with COVID-19 have been treated with antiviral therapies or anti-SARS-CoV-2 antibody products. However, there is no homogeneous approach to these treatment strategies. This issue was addressed within the European Reference Network (ERN) on Rare and Complex Connective Tissue and Musculoskeletal Diseases (ReCONNET) in a discussion among experts and patient's representatives in the context of the rare and complex connective tissue diseases (rCTDs) covered by the Network. ERN ReCONNET is one of the 24 ERNs launched by the European Commission in 2017 with the aim of tackling low prevalence and rare diseases that require highly specialised treatment and promoting concentration of knowledge and resources through virtual networks involving healthcare providers (HCPs) across the European Union (EU). Considering the urgent need to provide guidance not only to the rCTDs community, but also to the whole ARDs community, a multidisciplinary Task Force, including expert clinicians and European Patient Advocacy Group (ePAG) Advocates, was created in the framework of ERN ReCONNET with the aim of developing overarching principles (OP) and points-to-consider (PtC) on a homogenous approach to treat immunocompromised patients with ARDs (with a particular focus on CTDs) affected by COVID-19 using antiviral therapies and anti-SARS-CoV-2 antibody products. The present work reports the fina
Published: 2023

7. Cohort Enrichment Strategies for Progressive Interstitial Lung Disease in Systemic Sclerosis From European Scleroderma Trials and Research

Author: Hoffmann-Vold, A.-M. Brunborg, C. Airò, P. Ananyeva, L.P. Czirják, L. Guiducci, S. Hachulla, E. Li, M. Mihai, C. Riemekasten, G. Sfikakis, P.P. Valentini, G. Kowal-Bielecka, O. Allanore, Y. Distler, O. Vacca, A. Giollo, A. Balbir-Gurman, A. Gheorghiu, A.M. Marcoccia, A. Herrick, A. Radic, M. Stamenkovic, B. Anic, B. Granel, B. Ribi, C. Selmi, C.F. Carlos de la Puente, M. de Souza Müller, C. Denton, C. Kayser, C. Tanaseanu, C.-M. Majewski, D. Rimar, D. Krasowska, D. Veale, D. Walker, U. Kerzberg, E. Rezus, E. Zanatta, E. Siegert, E. De Langhe, E. Oksel, F. Ingegnoli, F. Cantatore, F.P. Szücs, G. Cuomo, G. Seskute, G. Litinsky, V. Castellví, I. Morovic-Vergles, J. Sibilia, J. Henes, J. Solanki, K. Perdan-Pirkmajer, K. Herrmann, K. Saketkoo, L.A. Stamp, L. Mouthon, L. Salvador, M.J. Pozzi, M.R. Üprus, M. Vanthuyne, M. Engelhart, M. Köhm, M. Iudici, M. Inanc, M. Fathi, N. Pamuk, N. García de la Peña Lefebv, P. Carreira, P.E. Bancel, D.F. Moroncini, L. Montecucco, C. Ancuta, C. Sunderkötter, C. Müller-Ladner, U. Rosato, E. Kucharz, E.J. Iannone, F. Del Galdo, F. Poormoghim, H. Kötter, I. Distler, J. Cutolo, M. Tikly, M. Damjanov, N. Hunzelmann, N. Vlachoyiannopoulos, P. Hasler, P. Sarzi Puttini, P. Wiland, P. Becvar, R. Yavuz, S. Zdrojewski, Z. Pellerito, R. Foti, R. Ionescu, R.M. Adler, S. Kahl, S. Moiseev, S. Stebbings, S. Rednic, S. Negrini, S. Heitmann, S. Ullman, S. Agachi, S. Martin, T. Schmeiser, T. Riccieri, V. Smith, V. Bernardino, V. Ortiz-Santamaria, V. Hsu, V.M. Abdel Atty Mohamed, W.A. EUSTAR collaborators and Hoffmann-Vold, A.-M. Brunborg, C. Airò, P. Ananyeva, L.P. Czirják, L. Guiducci, S. Hachulla, E. Li, M. Mihai, C. Riemekasten, G. Sfikakis, P.P. Valentini, G. Kowal-Bielecka, O. Allanore, Y. Distler, O. Vacca, A. Giollo, A. Balbir-Gurman, A. Gheorghiu, A.M. Marcoccia, A. Herrick, A. Radic, M. Stamenkovic, B. Anic, B. Granel, B. Ribi, C. Selmi, C.F. Carlos de la Puente, M. de Souza Müller, C. Denton, C. Kayser, C. Tanaseanu, C.-M. Majewski, D. Rimar, D. Krasowska, D. Veale, D. Walker, U. Kerzberg, E. Rezus, E. Zanatta, E. Siegert, E. De Langhe, E. Oksel, F. Ingegnoli, F. Cantatore, F.P. Szücs, G. Cuomo, G. Seskute, G. Litinsky, V. Castellví, I. Morovic-Vergles, J. Sibilia, J. Henes, J. Solanki, K. Perdan-Pirkmajer, K. Herrmann, K. Saketkoo, L.A. Stamp, L. Mouthon, L. Salvador, M.J. Pozzi, M.R. Üprus, M. Vanthuyne, M. Engelhart, M. Köhm, M. Iudici, M. Inanc, M. Fathi, N. Pamuk, N. García de la Peña Lefebv, P. Carreira, P.E. Bancel, D.F. Moroncini, L. Montecucco, C. Ancuta, C. Sunderkötter, C. Müller-Ladner, U. Rosato, E. Kucharz, E.J. Iannone, F. Del Galdo, F. Poormoghim, H. Kötter, I. Distler, J. Cutolo, M. Tikly, M. Damjanov, N. Hunzelmann, N. Vlachoyiannopoulos, P. Hasler, P. Sarzi Puttini, P. Wiland, P. Becvar, R. Yavuz, S. Zdrojewski, Z. Pellerito, R. Foti, R. Ionescu, R.M. Adler, S. Kahl, S. Moiseev, S. Stebbings, S. Rednic, S. Negrini, S. Heitmann, S. Ullman, S. Agachi, S. Martin, T. Schmeiser, T. Riccieri, V. Smith, V. Bernardino, V. Ortiz-Santamaria, V. Hsu, V.M. Abdel Atty Mohamed, W.A. EUSTAR collaborators
Abstract: Background: Enrichment strategies from clinical trials for progressive systemic sclerosis-associated interstitial lung disease (SSc-ILD) have not been tested in a real-life cohort. Research Question: Do enrichment strategies for progressive ILD impact efficacy, representativeness, and feasibility in patients with SSc-ILD from the European Scleroderma Trials and Research (EUSTAR) database? Study Design and Methods: We applied the inclusion criteria of major recent SSc-ILD trials (Study of the Efficacy and Safety of Tocilizumab in Participants With Systemic Sclerosis [focuSSced], Scleroderma Lung Study II [SLS II], and Safety and Efficacy of Nintedanib in Systemic Sclerosis [SENSCIS]) and assessed progressive ILD, which was defined as absolute change in FVC and as significant progression (FVC decline ≥10%). Data were compared with all patients and with patients who did not fulfill any inclusion criteria. Results: In total, 2,258 patients with SSc-ILD were included: 31.2% of the patients met SENSCIS criteria; 5.8% of the patients met SLS II criteria; 1.6% of the patients met focuSSced criteria, and 67.7% (1,529) of the patients did not meet any criteria. In the first 12 ± 3 months, the absolute FVC decline in all patients and in patients who fulfilled criteria from SENSCIS was –0.1%, in patients who fulfilled criteria from focuSSced was –3.7%, and in patients who fulfilled criteria from SLS II was 2.3%, with accompanying more progressors in focuSSced. The patient populations that fulfilled the different study inclusion criteria significantly differed in various clinical parameters. In the second 12-month period, SENSCIS-enriched patients had a further absolute FVC% decline as described for the total cohort. In contrast, patients who fulfilled the focuSSced and SLS II criteria showed numeric improvement of lung function. There were no significant associations of enrichment criteria and ILD progression. Interpretation: The application of enrichment criteria from previous
Published: 2023

8. ERN ReCONNET points to consider for treating patients living with autoimmune rheumatic diseases with antiviral therapies and anti-SARS-CoV-2 antibody products.

Author: Talarico, R., Ramirez, G.A., Barreira, S.C., Cardamone, C., Triggianese, P., Aguilera, S., Andersen, J., Avcin, T., Benistan, K., Bertsias, G., Bortoluzzi, A., Bouillot, C., Bulina, I., Burmester, G.R., Callens, S., Carreira, P.E., Cervera, R., Cutolo, M., Damian, L., Della-Torre, E., Faria, R., Fonseca, J.E., Galetti, I., Hachulla, E., Iaccarino, L., Jacobsen, S., Khmelinskii, N., Limper, M., Marinello, D., Meyer, A, Moroncini, G., Nagy, G., Olesinska, M., Pamfil, C., Pileckyte, M., Pistello, M., Rednic, S., Richez, C., Romão, V.C., Schneider, M., Sciascia, S., Scirè, C.A., Simonini, G., Smith, V., Sulli, A., Tani, C., Tas, S.W., Tincani, A., Vonk, M.C., Tektonidou, M., Mosca, M., Talarico, R., Ramirez, G.A., Barreira, S.C., Cardamone, C., Triggianese, P., Aguilera, S., Andersen, J., Avcin, T., Benistan, K., Bertsias, G., Bortoluzzi, A., Bouillot, C., Bulina, I., Burmester, G.R., Callens, S., Carreira, P.E., Cervera, R., Cutolo, M., Damian, L., Della-Torre, E., Faria, R., Fonseca, J.E., Galetti, I., Hachulla, E., Iaccarino, L., Jacobsen, S., Khmelinskii, N., Limper, M., Marinello, D., Meyer, A, Moroncini, G., Nagy, G., Olesinska, M., Pamfil, C., Pileckyte, M., Pistello, M., Rednic, S., Richez, C., Romão, V.C., Schneider, M., Sciascia, S., Scirè, C.A., Simonini, G., Smith, V., Sulli, A., Tani, C., Tas, S.W., Tincani, A., Vonk, M.C., Tektonidou, M., and Mosca, M.
Abstract: Item does not contain fulltext, Recent studies have shown that people who are immunocompromised may inadvertently play a role in spurring the mutations of the virus that create new variants. This is because some immunocompromised individuals remain at risk of getting COVID-19 despite vaccination, experience more severe disease, are susceptible to being chronically infected and remain contagious for longer if they become infected and considering that immunocompromised individuals represent approximately 2% of the overall population, this aspect should be carefully considered. So far, some autoimmune rheumatic disease (ARD) patients with COVID-19 have been treated with antiviral therapies or anti-SARS-CoV-2 antibody products. However, there is no homogeneous approach to these treatment strategies. This issue was addressed within the European Reference Network (ERN) on Rare and Complex Connective Tissue and Musculoskeletal Diseases (ReCONNET) in a discussion among experts and patient's representatives in the context of the rare and complex connective tissue diseases (rCTDs) covered by the Network. ERN ReCONNET is one of the 24 ERNs launched by the European Commission in 2017 with the aim of tackling low prevalence and rare diseases that require highly specialised treatment and promoting concentration of knowledge and resources through virtual networks involving healthcare providers (HCPs) across the European Union (EU). Considering the urgent need to provide guidance not only to the rCTDs community, but also to the whole ARDs community, a multidisciplinary Task Force, including expert clinicians and European Patient Advocacy Group (ePAG) Advocates, was created in the framework of ERN ReCONNET with the aim of developing overarching principles (OP) and points-to-consider (PtC) on a homogenous approach to treat immunocompromised patients with ARDs (with a particular focus on CTDs) affected by COVID-19 using antiviral therapies and anti-SARS-CoV-2 antibody products. The present work reports the final OP
Published: 2023

9. ERN ReCONNET points to consider for treating patients living with autoimmune rheumatic diseases with antiviral therapies and anti-SARS-CoV-2 antibody products

Author: Talarico, Rosaria R., Ramirez, G. A., Barreira, S. C., Cardamone, C., Triggianese, P., Aguilera, S., Andersen, J., Avcin, T., Benistan, K., Bertsias, G., Bortoluzzi, A., Bouillot, C., Bulina, I., Burmester, G. R., Callens, S., Carreira, P. E., Cervera, R., Cutolo, M., Damian, L., Torre, E. Della, Faria, R., Fonseca, J. E., Galetti, I., Hachulla, E., Iaccarino, L., Jacobsen, S., Khmelinskii, N., Limper, M., Marinello, D., Meyer, A., Moroncini, G., Nagy, G., Olesinska, M., Pamfil, C., Pileckyte, M., Pistello, M., Rednic, S., Richez, C., Romão, V. C., Schneider, M., Sciascia, S., Scirè, C. A., Simonini, G., Smith, V., Sulli, A., Tani, C., Tas, S. W., Tincani, A., Vonk, M. C., Tektonidou, M., Mosca, M., Talarico, Rosaria R., Ramirez, G. A., Barreira, S. C., Cardamone, C., Triggianese, P., Aguilera, S., Andersen, J., Avcin, T., Benistan, K., Bertsias, G., Bortoluzzi, A., Bouillot, C., Bulina, I., Burmester, G. R., Callens, S., Carreira, P. E., Cervera, R., Cutolo, M., Damian, L., Torre, E. Della, Faria, R., Fonseca, J. E., Galetti, I., Hachulla, E., Iaccarino, L., Jacobsen, S., Khmelinskii, N., Limper, M., Marinello, D., Meyer, A., Moroncini, G., Nagy, G., Olesinska, M., Pamfil, C., Pileckyte, M., Pistello, M., Rednic, S., Richez, C., Romão, V. C., Schneider, M., Sciascia, S., Scirè, C. A., Simonini, G., Smith, V., Sulli, A., Tani, C., Tas, S. W., Tincani, A., Vonk, M. C., Tektonidou, M., and Mosca, M.
Abstract: Recent studies have shown that people who are immunocompromised may inadvertently play a role in spurring the mutations of the virus that create new variants. This is because some immunocompromised individuals remain at risk of getting COVID-19 despite vaccination, experience more severe disease, are susceptible to being chronically infected and remain contagious for longer if they become infected and considering that immunocompromised individuals represent approximately 2% of the overall population, this aspect should be carefully considered. So far, some autoimmune rheumatic disease (ARD) patients with COVID-19 have been treated with antiviral therapies or anti-SARS-CoV-2 antibody products. However, there is no homogeneous approach to these treatment strategies. This issue was addressed within the European Reference Network (ERN) on Rare and Complex Connective Tissue and Musculoskeletal Diseases (ReCONNET) in a discussion among experts and patient’s representatives in the context of the rare and complex connective tissue diseases (rCTDs) covered by the Network. ERN ReCONNET is one of the 24 ERNs launched by the European Commission in 2017 with the aim of tackling low prevalence and rare diseases that require highly specialised treatment and promoting concentration of knowledge and resources through virtual networks involving healthcare providers (HCPs) across the European Union (EU). Considering the urgent need to provide guidance not only to the rCTDs community, but also to the whole ARDs community, a multidisciplinary Task Force, including expert clinicians and European Patient Advocacy Group (ePAG) Advocates, was created in the framework of ERN ReCONNET with the aim of developing overarching principles (OP) and points-to-consider (PtC) on a homogenous approach to treat immunocompromised patients with ARDs (with a particular focus on CTDs) affected by COVID-19 using antiviral therapies and anti-SARS-CoV-2 antibody products. The present work reports the final OP, Recent studies have shown that people who are immunocompromised may inadvertently play a role in spurring the mutations of the virus that create new variants. This is because some immunocompromised individuals remain at risk of getting COVID-19 despite vaccination, experience more severe disease, are susceptible to being chronically infected and remain contagious for longer if they become infected and considering that immunocompromised individuals represent approximately 2% of the overall population, this aspect should be carefully considered. So far, some autoimmune rheumatic disease (ARD) patients with COVID-19 have been treated with antiviral therapies or anti-SARS-CoV-2 antibody products. However, there is no homogeneous approach to these treatment strategies. This issue was addressed within the European Reference Network (ERN) on Rare and Complex Connective Tissue and Musculoskeletal Diseases (ReCONNET) in a discussion among experts and patient's representatives in the context of the rare and complex connective tissue diseases (rCTDs) covered by the Network. ERN ReCONNET is one of the 24 ERNs launched by the European Commission in 2017 with the aim of tackling low prevalence and rare diseases that require highly specialised treatment and promoting concentration of knowledge and resources through virtual networks involving healthcare providers (HCPs) across the European Union (EU). Considering the urgent need to provide guidance not only to the rCTDs community, but also to the whole ARDs community, a multidisciplinary Task Force, including expert clinicians and European Patient Advocacy Group (ePAG) Advocates, was created in the framework of ERN ReCONNET with the aim of developing overarching principles (OP) and points-to-consider (PtC) on a homogenous approach to treat immunocompromised patients with ARDs (with a particular focus on CTDs) affected by COVID-19 using antiviral therapies and anti-SARS-CoV-2 antibody products. The present work reports the final
Published: 2023

10. Factors associated with COVID-19-related death in people with rheumatic diseases: Results from the COVID-19 Global Rheumatology Alliance physician-reported registry

Author: Strangfeld, A, Schafer, M, Gianfrancesco, M, Lawson-Tovey, S, Liew, J, Ljung, L, Mateus, E, Richez, C, Santos, M, Schmajuk, G, Scire, C, Sirotich, E, Sparks, J, Sufka, P, Thomas, T, Trupin, L, Wallace, Z, Al-Adely, S, Bachiller-Corral, J, Bhana, S, Cacoub, P, Carmona, L, Costello, R, Costello, W, Gossec, L, Grainger, R, Hachulla, E, Hasseli, R, Hausmann, J, Hyrich, K, Izadi, Z, Jacobsohn, L, Katz, P, Kearsley-Fleet, L, Robinson, P, Yazdany, J, Machado, P, Strangfeld A., Schafer M., Gianfrancesco M. A., Lawson-Tovey S., Liew J. W., Ljung L., Mateus E. F., Richez C., Santos M. J., Schmajuk G., Scire C. A., Sirotich E., Sparks J. A., Sufka P., Thomas T., Trupin L., Wallace Z. S., Al-Adely S., Bachiller-Corral J., Bhana S., Cacoub P., Carmona L., Costello R., Costello W., Gossec L., Grainger R., Hachulla E., Hasseli R., Hausmann J. S., Hyrich K. L., Izadi Z., Jacobsohn L., Katz P., Kearsley-Fleet L., Robinson P. C., Yazdany J., Machado P. M., Strangfeld, A, Schafer, M, Gianfrancesco, M, Lawson-Tovey, S, Liew, J, Ljung, L, Mateus, E, Richez, C, Santos, M, Schmajuk, G, Scire, C, Sirotich, E, Sparks, J, Sufka, P, Thomas, T, Trupin, L, Wallace, Z, Al-Adely, S, Bachiller-Corral, J, Bhana, S, Cacoub, P, Carmona, L, Costello, R, Costello, W, Gossec, L, Grainger, R, Hachulla, E, Hasseli, R, Hausmann, J, Hyrich, K, Izadi, Z, Jacobsohn, L, Katz, P, Kearsley-Fleet, L, Robinson, P, Yazdany, J, Machado, P, Strangfeld A., Schafer M., Gianfrancesco M. A., Lawson-Tovey S., Liew J. W., Ljung L., Mateus E. F., Richez C., Santos M. J., Schmajuk G., Scire C. A., Sirotich E., Sparks J. A., Sufka P., Thomas T., Trupin L., Wallace Z. S., Al-Adely S., Bachiller-Corral J., Bhana S., Cacoub P., Carmona L., Costello R., Costello W., Gossec L., Grainger R., Hachulla E., Hasseli R., Hausmann J. S., Hyrich K. L., Izadi Z., Jacobsohn L., Katz P., Kearsley-Fleet L., Robinson P. C., Yazdany J., and Machado P. M.
Abstract: Objectives To determine factors associated with COVID-19-related death in people with rheumatic diseases. Methods Physician-reported registry of adults with rheumatic disease and confirmed or presumptive COVID-19 (from 24 March to 1 July 2020). The primary outcome was COVID-19-related death. Age, sex, smoking status, comorbidities, rheumatic disease diagnosis, disease activity and medications were included as covariates in multivariable logistic regression models. Analyses were further stratified according to rheumatic disease category. Results Of 3729 patients (mean age 57 years, 68% female), 390 (10.5%) died. Independent factors associated with COVID-19-related death were age (66-75 years: OR 3.00, 95% CI 2.13 to 4.22; >75 years: 6.18, 4.47 to 8.53; both vs ≤65 years), male sex (1.46, 1.11 to 1.91), hypertension combined with cardiovascular disease (1.89, 1.31 to 2.73), chronic lung disease (1.68, 1.26 to 2.25) and prednisolone-equivalent dosage >10 mg/day (1.69, 1.18 to 2.41; vs no glucocorticoid intake). Moderate/high disease activity (vs remission/low disease activity) was associated with higher odds of death (1.87, 1.27 to 2.77). Rituximab (4.04, 2.32 to 7.03), sulfasalazine (3.60, 1.66 to 7.78), immunosuppressants (azathioprine, cyclophosphamide, ciclosporin, mycophenolate or tacrolimus: 2.22, 1.43 to 3.46) and not receiving any disease-modifying anti-rheumatic drug (DMARD) (2.11, 1.48 to 3.01) were associated with higher odds of death, compared with methotrexate monotherapy. Other synthetic/biological DMARDs were not associated with COVID-19-related death. Conclusion Among people with rheumatic disease, COVID-19-related death was associated with known general factors (older age, male sex and specific comorbidities) and disease-specific factors (disease activity and specific medications). The association with moderate/high disease activity highlights the importance of adequate disease control with DMARDs, preferably without increasing glucocorticoid dos
Published: 2021

11. Factors associated with COVID-19-related death in people with rheumatic diseases: Results from the COVID-19 Global Rheumatology Alliance physician-reported registry

Author: Strangfeld, A, Schafer, M, Gianfrancesco, M, Lawson-Tovey, S, Liew, J, Ljung, L, Mateus, E, Richez, C, Santos, M, Schmajuk, G, Scire, C, Sirotich, E, Sparks, J, Sufka, P, Thomas, T, Trupin, L, Wallace, Z, Al-Adely, S, Bachiller-Corral, J, Bhana, S, Cacoub, P, Carmona, L, Costello, R, Costello, W, Gossec, L, Grainger, R, Hachulla, E, Hasseli, R, Hausmann, J, Hyrich, K, Izadi, Z, Jacobsohn, L, Katz, P, Kearsley-Fleet, L, Robinson, P, Yazdany, J, Machado, P, Strangfeld A., Schafer M., Gianfrancesco M. A., Lawson-Tovey S., Liew J. W., Ljung L., Mateus E. F., Richez C., Santos M. J., Schmajuk G., Scire C. A., Sirotich E., Sparks J. A., Sufka P., Thomas T., Trupin L., Wallace Z. S., Al-Adely S., Bachiller-Corral J., Bhana S., Cacoub P., Carmona L., Costello R., Costello W., Gossec L., Grainger R., Hachulla E., Hasseli R., Hausmann J. S., Hyrich K. L., Izadi Z., Jacobsohn L., Katz P., Kearsley-Fleet L., Robinson P. C., Yazdany J., Machado P. M., Strangfeld, A, Schafer, M, Gianfrancesco, M, Lawson-Tovey, S, Liew, J, Ljung, L, Mateus, E, Richez, C, Santos, M, Schmajuk, G, Scire, C, Sirotich, E, Sparks, J, Sufka, P, Thomas, T, Trupin, L, Wallace, Z, Al-Adely, S, Bachiller-Corral, J, Bhana, S, Cacoub, P, Carmona, L, Costello, R, Costello, W, Gossec, L, Grainger, R, Hachulla, E, Hasseli, R, Hausmann, J, Hyrich, K, Izadi, Z, Jacobsohn, L, Katz, P, Kearsley-Fleet, L, Robinson, P, Yazdany, J, Machado, P, Strangfeld A., Schafer M., Gianfrancesco M. A., Lawson-Tovey S., Liew J. W., Ljung L., Mateus E. F., Richez C., Santos M. J., Schmajuk G., Scire C. A., Sirotich E., Sparks J. A., Sufka P., Thomas T., Trupin L., Wallace Z. S., Al-Adely S., Bachiller-Corral J., Bhana S., Cacoub P., Carmona L., Costello R., Costello W., Gossec L., Grainger R., Hachulla E., Hasseli R., Hausmann J. S., Hyrich K. L., Izadi Z., Jacobsohn L., Katz P., Kearsley-Fleet L., Robinson P. C., Yazdany J., and Machado P. M.
Abstract: Objectives To determine factors associated with COVID-19-related death in people with rheumatic diseases. Methods Physician-reported registry of adults with rheumatic disease and confirmed or presumptive COVID-19 (from 24 March to 1 July 2020). The primary outcome was COVID-19-related death. Age, sex, smoking status, comorbidities, rheumatic disease diagnosis, disease activity and medications were included as covariates in multivariable logistic regression models. Analyses were further stratified according to rheumatic disease category. Results Of 3729 patients (mean age 57 years, 68% female), 390 (10.5%) died. Independent factors associated with COVID-19-related death were age (66-75 years: OR 3.00, 95% CI 2.13 to 4.22; >75 years: 6.18, 4.47 to 8.53; both vs ≤65 years), male sex (1.46, 1.11 to 1.91), hypertension combined with cardiovascular disease (1.89, 1.31 to 2.73), chronic lung disease (1.68, 1.26 to 2.25) and prednisolone-equivalent dosage >10 mg/day (1.69, 1.18 to 2.41; vs no glucocorticoid intake). Moderate/high disease activity (vs remission/low disease activity) was associated with higher odds of death (1.87, 1.27 to 2.77). Rituximab (4.04, 2.32 to 7.03), sulfasalazine (3.60, 1.66 to 7.78), immunosuppressants (azathioprine, cyclophosphamide, ciclosporin, mycophenolate or tacrolimus: 2.22, 1.43 to 3.46) and not receiving any disease-modifying anti-rheumatic drug (DMARD) (2.11, 1.48 to 3.01) were associated with higher odds of death, compared with methotrexate monotherapy. Other synthetic/biological DMARDs were not associated with COVID-19-related death. Conclusion Among people with rheumatic disease, COVID-19-related death was associated with known general factors (older age, male sex and specific comorbidities) and disease-specific factors (disease activity and specific medications). The association with moderate/high disease activity highlights the importance of adequate disease control with DMARDs, preferably without increasing glucocorticoid dos
Published: 2021

12. The added value of a European Reference Network on rare and complex connective tissue and musculoskeletal diseases:insights after the first 5 years of the ERN ReCONNET

Author: Talarico, R., Aguilera, S., Alexander, T., Amoura, Z., Andersen, J., Arnaud, L., Avcin, T., Marsal Barril, S., Beretta, L., Bombardieri, S., Bortoluzzi, A., Bouillot, C., Bulina, I., Burmester, G. R., Cannizzo, S., Cavagna, L., Chaigne, B., Cornet, A., Corti, P., Costedoat-Chalumeau, N., Dāvidsone, Z., Doria, A., Fenech, C., Ferraris, A., Fischer-Betz, R., Fonseca, J. E., Frank, C., Gaglioti, A., Galetti, I., Guimarães, V., Hachulla, E., Holmner, M., Houssiau, F., Iaccarino, L., Jacobsen, S., Limper, M., Malfait, F., Mariette, X., Marinello, D., Martin, T., Matthews, L., Matucci-Cerinic, M., Meyer, A., Milas-Ahić, J., Moinzadeh, P., Montecucco, C., Mouthon, L., Müller-Ladner, U., Nagy, G., Patarata, E., Pileckyte, M., Pruunsild, C., Rednic, S., Romão, V. C., Schneider, M., Scirè, C. A., Smith, V., Sulli, A., Tamirou, F., Tani, C., Taruscio, D., Taulaigo, A. V., Tincani, A., Ticciati, S., Turchetti, G., van Hagen, P. M., van Laar, J. M., Vieira, A., de Vries-Bouwstra, J. K., Zschocke, J., Cutolo, M., Mosca, Marta, Talarico, R., Aguilera, S., Alexander, T., Amoura, Z., Andersen, J., Arnaud, L., Avcin, T., Marsal Barril, S., Beretta, L., Bombardieri, S., Bortoluzzi, A., Bouillot, C., Bulina, I., Burmester, G. R., Cannizzo, S., Cavagna, L., Chaigne, B., Cornet, A., Corti, P., Costedoat-Chalumeau, N., Dāvidsone, Z., Doria, A., Fenech, C., Ferraris, A., Fischer-Betz, R., Fonseca, J. E., Frank, C., Gaglioti, A., Galetti, I., Guimarães, V., Hachulla, E., Holmner, M., Houssiau, F., Iaccarino, L., Jacobsen, S., Limper, M., Malfait, F., Mariette, X., Marinello, D., Martin, T., Matthews, L., Matucci-Cerinic, M., Meyer, A., Milas-Ahić, J., Moinzadeh, P., Montecucco, C., Mouthon, L., Müller-Ladner, U., Nagy, G., Patarata, E., Pileckyte, M., Pruunsild, C., Rednic, S., Romão, V. C., Schneider, M., Scirè, C. A., Smith, V., Sulli, A., Tamirou, F., Tani, C., Taruscio, D., Taulaigo, A. V., Tincani, A., Ticciati, S., Turchetti, G., van Hagen, P. M., van Laar, J. M., Vieira, A., de Vries-Bouwstra, J. K., Zschocke, J., Cutolo, M., and Mosca, Marta
Abstract: In order to address the main challenges related to the rare diseases (RDs) the European Commission launched the European Reference Networks (ERNs), virtual networks involving healthcare providers (HCPs) across Europe. The mission of the ERNs is to tackle low prevalence and RDs that require highly specialised treatment and a concentration of knowledge and resources. In fact, ERNs offer the potential to give patients and healthcare professionals across the EU access to the best expertise and timely exchange of lifesaving knowledge, trying to make the knowledge travelling more than patients. For this reason, ERNs were established as concrete European infrastructures, and this is particularly crucial in the framework of rare and complex diseases in which no country alone has the whole knowledge and capacity to treat all types of patients. It has been five years since their kick-off launch in Vilnius in 2017. The 24 ERNs have been intensively working on different transversal areas, including patient management, education, clinical practice guidelines, patients' care pathways and many other fundamental topics. The present work is therefore aimed not only at reporting a summary of the main activities and milestones reached so far, but also at celebrating the first 5 years of the ERN on Rare and Complex Connective Tissue and Musculo-skeletal Diseases (ReCONNET), in which the members of the network built together one of the 24 infrastructures that are hopefully going to change the scenario of rare diseases across the EU.
Published: 2022

13. The added value of a European Reference Network on rare and complex connective tissue and musculoskeletal diseases:insights after the first 5 years of the ERN ReCONNET

Author: Talarico, R., Aguilera, S., Alexander, T., Amoura, Z., Andersen, J., Arnaud, L., Avcin, T., Marsal Barril, S., Beretta, L., Bombardieri, S., Bortoluzzi, A., Bouillot, C., Bulina, I., Burmester, G. R., Cannizzo, S., Cavagna, L., Chaigne, B., Cornet, A., Corti, P., Costedoat-Chalumeau, N., Dāvidsone, Z., Doria, A., Fenech, C., Ferraris, A., Fischer-Betz, R., Fonseca, J. E., Frank, C., Gaglioti, A., Galetti, I., Guimarães, V., Hachulla, E., Holmner, M., Houssiau, F., Iaccarino, L., Jacobsen, S., Limper, M., Malfait, F., Mariette, X., Marinello, D., Martin, T., Matthews, L., Matucci-Cerinic, M., Meyer, A., Milas-Ahić, J., Moinzadeh, P., Montecucco, C., Mouthon, L., Müller-Ladner, U., Nagy, G., Patarata, E., Pileckyte, M., Pruunsild, C., Rednic, S., Romão, V. C., Schneider, M., Scirè, C. A., Smith, V., Sulli, A., Tamirou, F., Tani, C., Taruscio, D., Taulaigo, A. V., Tincani, A., Ticciati, S., Turchetti, G., van Hagen, P. M., van Laar, J. M., Vieira, A., de Vries-Bouwstra, J. K., Zschocke, J., Cutolo, M., Mosca, Marta, Talarico, R., Aguilera, S., Alexander, T., Amoura, Z., Andersen, J., Arnaud, L., Avcin, T., Marsal Barril, S., Beretta, L., Bombardieri, S., Bortoluzzi, A., Bouillot, C., Bulina, I., Burmester, G. R., Cannizzo, S., Cavagna, L., Chaigne, B., Cornet, A., Corti, P., Costedoat-Chalumeau, N., Dāvidsone, Z., Doria, A., Fenech, C., Ferraris, A., Fischer-Betz, R., Fonseca, J. E., Frank, C., Gaglioti, A., Galetti, I., Guimarães, V., Hachulla, E., Holmner, M., Houssiau, F., Iaccarino, L., Jacobsen, S., Limper, M., Malfait, F., Mariette, X., Marinello, D., Martin, T., Matthews, L., Matucci-Cerinic, M., Meyer, A., Milas-Ahić, J., Moinzadeh, P., Montecucco, C., Mouthon, L., Müller-Ladner, U., Nagy, G., Patarata, E., Pileckyte, M., Pruunsild, C., Rednic, S., Romão, V. C., Schneider, M., Scirè, C. A., Smith, V., Sulli, A., Tamirou, F., Tani, C., Taruscio, D., Taulaigo, A. V., Tincani, A., Ticciati, S., Turchetti, G., van Hagen, P. M., van Laar, J. M., Vieira, A., de Vries-Bouwstra, J. K., Zschocke, J., Cutolo, M., and Mosca, Marta
Abstract: In order to address the main challenges related to the rare diseases (RDs) the European Commission launched the European Reference Networks (ERNs), virtual networks involving healthcare providers (HCPs) across Europe. The mission of the ERNs is to tackle low prevalence and RDs that require highly specialised treatment and a concentration of knowledge and resources. In fact, ERNs offer the potential to give patients and healthcare professionals across the EU access to the best expertise and timely exchange of lifesaving knowledge, trying to make the knowledge travelling more than patients. For this reason, ERNs were established as concrete European infrastructures, and this is particularly crucial in the framework of rare and complex diseases in which no country alone has the whole knowledge and capacity to treat all types of patients. It has been five years since their kick-off launch in Vilnius in 2017. The 24 ERNs have been intensively working on different transversal areas, including patient management, education, clinical practice guidelines, patients' care pathways and many other fundamental topics. The present work is therefore aimed not only at reporting a summary of the main activities and milestones reached so far, but also at celebrating the first 5 years of the ERN on Rare and Complex Connective Tissue and Musculo-skeletal Diseases (ReCONNET), in which the members of the network built together one of the 24 infrastructures that are hopefully going to change the scenario of rare diseases across the EU.
Published: 2022

14. Undifferentiated connective tissue disease: State of the art on clinical practice guidelines

Author: Antunes, M, Scire, C, Talarico, R, Alexander, T, Avcin, T, Belocchi, C, Doria, A, Franceschini, F, Galetti, I, Govoni, M, Hachulla, E, Launay, D, Lepri, G, Macieira, C, Matucci-Cerinic, M, Montecucco, C, Moraes-Fontes, M, Mouthon, L, Paolino, S, Ramoni, V, Tani, C, Tas, S, Tincani, A, Van Vollenhoven, R, Zen, M, Fonseca, J, Bombardieri, S, Schneider, M, Smith, V, Cutolo, M, Mosca, M, Beretta, L, Antunes M., Scire C. A., Talarico R., Alexander T., Avcin T., Belocchi C., Doria A., Franceschini F., Galetti I., Govoni M., Hachulla E., Launay D., Lepri G., Macieira C., Matucci-Cerinic M., Montecucco C. M., Moraes-Fontes M. F., Mouthon L., Paolino S., Ramoni V., Tani C., Tas S. W., Tincani A., Van Vollenhoven R., Zen M., Fonseca J., Bombardieri S., Fonseca J. E., Schneider M., Smith V., Cutolo M., Mosca M., Beretta L., Antunes, M, Scire, C, Talarico, R, Alexander, T, Avcin, T, Belocchi, C, Doria, A, Franceschini, F, Galetti, I, Govoni, M, Hachulla, E, Launay, D, Lepri, G, Macieira, C, Matucci-Cerinic, M, Montecucco, C, Moraes-Fontes, M, Mouthon, L, Paolino, S, Ramoni, V, Tani, C, Tas, S, Tincani, A, Van Vollenhoven, R, Zen, M, Fonseca, J, Bombardieri, S, Schneider, M, Smith, V, Cutolo, M, Mosca, M, Beretta, L, Antunes M., Scire C. A., Talarico R., Alexander T., Avcin T., Belocchi C., Doria A., Franceschini F., Galetti I., Govoni M., Hachulla E., Launay D., Lepri G., Macieira C., Matucci-Cerinic M., Montecucco C. M., Moraes-Fontes M. F., Mouthon L., Paolino S., Ramoni V., Tani C., Tas S. W., Tincani A., Van Vollenhoven R., Zen M., Fonseca J., Bombardieri S., Fonseca J. E., Schneider M., Smith V., Cutolo M., Mosca M., and Beretta L.
Abstract: The term a € undifferentiated connective tissue disease' (UCTD) is generally used to describe clinical entities characterised by clinical and serological manifestations of systemic autoimmune diseases but not fulfilling the criteria for defined connective tissue diseases (CTDs). In this narrative review, we summarise the results of a systematic literature research, which was performed as part of the ERN ReCONNET project, aimed at evaluating existing clinical practice guidelines (CPGs) or recommendations. No specific CPG on UCTD were found, potential areas of intervention are absence of a consensus definition of UCTD, need for specific monitoring and therapeutic protocols, stratification of UCTD based on the risk of developing a defined CTD and preventive measure for the future development of a more severe condition. Patients feel uncertainty regarding the name of the disease and feel the need of a better education and understanding of these conditions and its possible changes over time.
Published: 2019

15. Idiopathic inflammatory myopathies: Narrative review of unmet needs in clinical practice guidelines

Author: Meyer, A, Scire, C, Talarico, R, Alexander, T, Amoura, Z, Avcin, T, Barsotti, S, Beretta, L, Blagojevic, J, Burmester, G, Cavazzana, I, Cherrin, P, Damian, L, Doria, A, Fonseca, J, Furini, F, Galetti, I, Houssiau, F, Krieg, T, Maddalena, L, Launay, D, Campanilho-Marques, R, Martin, T, Matucci-Cerinic, M, Moinzadeh, P, Montecucco, C, Moraes-Fontes, M, Mouthon, L, Neri, R, Paolino, S, Piette, Y, Rednic, S, Tamirou, F, Tincani, A, Toplak, N, Bombardieri, S, Hachulla, E, Mueller-Ladner, U, Schneider, M, Smith, V, Vieira, A, Cutolo, M, Mosca, M, Cavagna, L, Meyer A., Scire C. A., Talarico R., Alexander T., Amoura Z., Avcin T., Barsotti S., Beretta L., Blagojevic J., Burmester G., Cavazzana I., Cherrin P., Damian L., Doria A., Fonseca J. E., Furini F., Galetti I., Houssiau F., Krieg T., Maddalena L., Launay D., Campanilho-Marques R., Martin T., Matucci-Cerinic M., Moinzadeh P., Montecucco C., Moraes-Fontes M. F., Mouthon L., Neri R., Paolino S., Piette Y., Rednic S., Tamirou F., Tincani A., Toplak N., Bombardieri S., Hachulla E., Mueller-Ladner U., Schneider M., Smith V., Vieira A., Cutolo M., Mosca M., Cavagna L., Meyer, A, Scire, C, Talarico, R, Alexander, T, Amoura, Z, Avcin, T, Barsotti, S, Beretta, L, Blagojevic, J, Burmester, G, Cavazzana, I, Cherrin, P, Damian, L, Doria, A, Fonseca, J, Furini, F, Galetti, I, Houssiau, F, Krieg, T, Maddalena, L, Launay, D, Campanilho-Marques, R, Martin, T, Matucci-Cerinic, M, Moinzadeh, P, Montecucco, C, Moraes-Fontes, M, Mouthon, L, Neri, R, Paolino, S, Piette, Y, Rednic, S, Tamirou, F, Tincani, A, Toplak, N, Bombardieri, S, Hachulla, E, Mueller-Ladner, U, Schneider, M, Smith, V, Vieira, A, Cutolo, M, Mosca, M, Cavagna, L, Meyer A., Scire C. A., Talarico R., Alexander T., Amoura Z., Avcin T., Barsotti S., Beretta L., Blagojevic J., Burmester G., Cavazzana I., Cherrin P., Damian L., Doria A., Fonseca J. E., Furini F., Galetti I., Houssiau F., Krieg T., Maddalena L., Launay D., Campanilho-Marques R., Martin T., Matucci-Cerinic M., Moinzadeh P., Montecucco C., Moraes-Fontes M. F., Mouthon L., Neri R., Paolino S., Piette Y., Rednic S., Tamirou F., Tincani A., Toplak N., Bombardieri S., Hachulla E., Mueller-Ladner U., Schneider M., Smith V., Vieira A., Cutolo M., Mosca M., and Cavagna L.
Abstract: Idiopathic inflammatory myopathies (IIMs) encompass a heterogeneous group of rare autoimmune diseases characterised by muscle weakness and inflammation, but in antisynthetase syndrome arthritis and interstitial lung disease are more frequent and often inaugurate the disease. Clinical practice guidelines (CPGs) have been proposed for IIMs, but they are sparse and heterogeneous. This work aimed at identifying: i) current available CPGs for IIMs, ii) patients ' and clinicians' unmet needs not covered by CPGs. It has been performed in the framework of the European Reference Network on rare and complex connective tissue and musculoskeletal diseases (ReCONNET), a network of centre of expertise and patients funded by the European Union's Health Programme. Fourteen original CPGs were identified, notably recommending that: i) extra-muscular involvements should be assessed; ii) corticosteroids and methotrexate or azathioprine are first-line therapies of IIMs. ii) IVIG is a treatment of resistant-DM that may be also used in other resistant-IIMs; iii) physical therapy and sun protection (in DM patients) are part of the treatment; v) tumour screening for patients with DM include imaging of chest, abdomen, pelvis and breast (in woman) along with colonoscopy (in patients over 50 years); vi) disease activity and damages should be monitor using standardised and validated tools. Yet, only half of these CPGs were evidence-based. Crucial unmet needs were identified both by patients and clinicians. In particular, there was a lack of large multidisciplinary working group and of patients ' preferences. The following fields were not or inappropriately targeted: diagnosis; management of extra-muscular involvements other than skin; co-morbidities and severe manifestations.
Published: 2019

16. IgG4-related diseases: State of the art on clinical practice guidelines

Author: Iaccarino, L, Talarico, R, Scire, C, Amoura, Z, Burmester, G, Doria, A, Faiz, K, Frank, C, Hachulla, E, Hie, M, Launay, D, Montecucco, C, Monti, S, Mouthon, L, Tincani, A, Toniati, P, Van Hagen, P, Van Vollenhoven, R, Bombardieri, S, Mueller-Ladner, U, Schneider, M, Smith, V, Cutolo, M, Mosca, M, Alexander, T, Iaccarino L., Talarico R., Scire C. A., Amoura Z., Burmester G., Doria A., Faiz K., Frank C., Hachulla E., Hie M., Launay D., Montecucco C., Monti S., Mouthon L., Tincani A., Toniati P., Van Hagen P. M., Van Vollenhoven R. F., Bombardieri S., Mueller-Ladner U., Schneider M., Smith V., Cutolo M., Mosca M., Alexander T., Iaccarino, L, Talarico, R, Scire, C, Amoura, Z, Burmester, G, Doria, A, Faiz, K, Frank, C, Hachulla, E, Hie, M, Launay, D, Montecucco, C, Monti, S, Mouthon, L, Tincani, A, Toniati, P, Van Hagen, P, Van Vollenhoven, R, Bombardieri, S, Mueller-Ladner, U, Schneider, M, Smith, V, Cutolo, M, Mosca, M, Alexander, T, Iaccarino L., Talarico R., Scire C. A., Amoura Z., Burmester G., Doria A., Faiz K., Frank C., Hachulla E., Hie M., Launay D., Montecucco C., Monti S., Mouthon L., Tincani A., Toniati P., Van Hagen P. M., Van Vollenhoven R. F., Bombardieri S., Mueller-Ladner U., Schneider M., Smith V., Cutolo M., Mosca M., and Alexander T.
Abstract: Immunoglobulin G4-related diseases (IgG4-RD) are a group of chronic relapsing-remitting inflammatory conditions, characterised by tissue infiltration with lymphocytes and IgG4-secreting plasma cells, fibrosis and a usually favourable response to steroids. In this narrative review, we summarise the results of a systematic literature research, which was performed as part of the European Reference Network ReCONNET, aimed at evaluating existing clinical practice guidelines (CPGs) and recommendations in IgG4-RD. From 167 publications initially obtained from a systematic literature search, only one was identified as a systematic multispecialist, evidence-based, consensus guidance statement on diagnosis and treatment of IgG4-RD, which may be recommended for use as CPG in IgG4-RD. With the recognition of a limited evidence based in this increasingly recognised disease, the group discussion has identified the following unmet needs: lack of shared classification criteria, absence of formal guidelines on diagnosis, no evidence-based therapeutic recommendations and lack of activity and damage indices. Areas of unmet needs include the difficulties in diagnosis, management and monitoring and the scarcity of expert centres.
Published: 2019

17. IgG4-related diseases: State of the art on clinical practice guidelines

Author: Iaccarino, L, Talarico, R, Scire, C, Amoura, Z, Burmester, G, Doria, A, Faiz, K, Frank, C, Hachulla, E, Hie, M, Launay, D, Montecucco, C, Monti, S, Mouthon, L, Tincani, A, Toniati, P, Van Hagen, P, Van Vollenhoven, R, Bombardieri, S, Mueller-Ladner, U, Schneider, M, Smith, V, Cutolo, M, Mosca, M, Alexander, T, Iaccarino L., Talarico R., Scire C. A., Amoura Z., Burmester G., Doria A., Faiz K., Frank C., Hachulla E., Hie M., Launay D., Montecucco C., Monti S., Mouthon L., Tincani A., Toniati P., Van Hagen P. M., Van Vollenhoven R. F., Bombardieri S., Mueller-Ladner U., Schneider M., Smith V., Cutolo M., Mosca M., Alexander T., Iaccarino, L, Talarico, R, Scire, C, Amoura, Z, Burmester, G, Doria, A, Faiz, K, Frank, C, Hachulla, E, Hie, M, Launay, D, Montecucco, C, Monti, S, Mouthon, L, Tincani, A, Toniati, P, Van Hagen, P, Van Vollenhoven, R, Bombardieri, S, Mueller-Ladner, U, Schneider, M, Smith, V, Cutolo, M, Mosca, M, Alexander, T, Iaccarino L., Talarico R., Scire C. A., Amoura Z., Burmester G., Doria A., Faiz K., Frank C., Hachulla E., Hie M., Launay D., Montecucco C., Monti S., Mouthon L., Tincani A., Toniati P., Van Hagen P. M., Van Vollenhoven R. F., Bombardieri S., Mueller-Ladner U., Schneider M., Smith V., Cutolo M., Mosca M., and Alexander T.
Abstract: Immunoglobulin G4-related diseases (IgG4-RD) are a group of chronic relapsing-remitting inflammatory conditions, characterised by tissue infiltration with lymphocytes and IgG4-secreting plasma cells, fibrosis and a usually favourable response to steroids. In this narrative review, we summarise the results of a systematic literature research, which was performed as part of the European Reference Network ReCONNET, aimed at evaluating existing clinical practice guidelines (CPGs) and recommendations in IgG4-RD. From 167 publications initially obtained from a systematic literature search, only one was identified as a systematic multispecialist, evidence-based, consensus guidance statement on diagnosis and treatment of IgG4-RD, which may be recommended for use as CPG in IgG4-RD. With the recognition of a limited evidence based in this increasingly recognised disease, the group discussion has identified the following unmet needs: lack of shared classification criteria, absence of formal guidelines on diagnosis, no evidence-based therapeutic recommendations and lack of activity and damage indices. Areas of unmet needs include the difficulties in diagnosis, management and monitoring and the scarcity of expert centres.
Published: 2019

18. Idiopathic inflammatory myopathies: Narrative review of unmet needs in clinical practice guidelines

Author: Meyer, A, Scire, C, Talarico, R, Alexander, T, Amoura, Z, Avcin, T, Barsotti, S, Beretta, L, Blagojevic, J, Burmester, G, Cavazzana, I, Cherrin, P, Damian, L, Doria, A, Fonseca, J, Furini, F, Galetti, I, Houssiau, F, Krieg, T, Maddalena, L, Launay, D, Campanilho-Marques, R, Martin, T, Matucci-Cerinic, M, Moinzadeh, P, Montecucco, C, Moraes-Fontes, M, Mouthon, L, Neri, R, Paolino, S, Piette, Y, Rednic, S, Tamirou, F, Tincani, A, Toplak, N, Bombardieri, S, Hachulla, E, Mueller-Ladner, U, Schneider, M, Smith, V, Vieira, A, Cutolo, M, Mosca, M, Cavagna, L, Meyer A., Scire C. A., Talarico R., Alexander T., Amoura Z., Avcin T., Barsotti S., Beretta L., Blagojevic J., Burmester G., Cavazzana I., Cherrin P., Damian L., Doria A., Fonseca J. E., Furini F., Galetti I., Houssiau F., Krieg T., Maddalena L., Launay D., Campanilho-Marques R., Martin T., Matucci-Cerinic M., Moinzadeh P., Montecucco C., Moraes-Fontes M. F., Mouthon L., Neri R., Paolino S., Piette Y., Rednic S., Tamirou F., Tincani A., Toplak N., Bombardieri S., Hachulla E., Mueller-Ladner U., Schneider M., Smith V., Vieira A., Cutolo M., Mosca M., Cavagna L., Meyer, A, Scire, C, Talarico, R, Alexander, T, Amoura, Z, Avcin, T, Barsotti, S, Beretta, L, Blagojevic, J, Burmester, G, Cavazzana, I, Cherrin, P, Damian, L, Doria, A, Fonseca, J, Furini, F, Galetti, I, Houssiau, F, Krieg, T, Maddalena, L, Launay, D, Campanilho-Marques, R, Martin, T, Matucci-Cerinic, M, Moinzadeh, P, Montecucco, C, Moraes-Fontes, M, Mouthon, L, Neri, R, Paolino, S, Piette, Y, Rednic, S, Tamirou, F, Tincani, A, Toplak, N, Bombardieri, S, Hachulla, E, Mueller-Ladner, U, Schneider, M, Smith, V, Vieira, A, Cutolo, M, Mosca, M, Cavagna, L, Meyer A., Scire C. A., Talarico R., Alexander T., Amoura Z., Avcin T., Barsotti S., Beretta L., Blagojevic J., Burmester G., Cavazzana I., Cherrin P., Damian L., Doria A., Fonseca J. E., Furini F., Galetti I., Houssiau F., Krieg T., Maddalena L., Launay D., Campanilho-Marques R., Martin T., Matucci-Cerinic M., Moinzadeh P., Montecucco C., Moraes-Fontes M. F., Mouthon L., Neri R., Paolino S., Piette Y., Rednic S., Tamirou F., Tincani A., Toplak N., Bombardieri S., Hachulla E., Mueller-Ladner U., Schneider M., Smith V., Vieira A., Cutolo M., Mosca M., and Cavagna L.
Abstract: Idiopathic inflammatory myopathies (IIMs) encompass a heterogeneous group of rare autoimmune diseases characterised by muscle weakness and inflammation, but in antisynthetase syndrome arthritis and interstitial lung disease are more frequent and often inaugurate the disease. Clinical practice guidelines (CPGs) have been proposed for IIMs, but they are sparse and heterogeneous. This work aimed at identifying: i) current available CPGs for IIMs, ii) patients ' and clinicians' unmet needs not covered by CPGs. It has been performed in the framework of the European Reference Network on rare and complex connective tissue and musculoskeletal diseases (ReCONNET), a network of centre of expertise and patients funded by the European Union's Health Programme. Fourteen original CPGs were identified, notably recommending that: i) extra-muscular involvements should be assessed; ii) corticosteroids and methotrexate or azathioprine are first-line therapies of IIMs. ii) IVIG is a treatment of resistant-DM that may be also used in other resistant-IIMs; iii) physical therapy and sun protection (in DM patients) are part of the treatment; v) tumour screening for patients with DM include imaging of chest, abdomen, pelvis and breast (in woman) along with colonoscopy (in patients over 50 years); vi) disease activity and damages should be monitor using standardised and validated tools. Yet, only half of these CPGs were evidence-based. Crucial unmet needs were identified both by patients and clinicians. In particular, there was a lack of large multidisciplinary working group and of patients ' preferences. The following fields were not or inappropriately targeted: diagnosis; management of extra-muscular involvements other than skin; co-morbidities and severe manifestations.
Published: 2019

19. Undifferentiated connective tissue disease: State of the art on clinical practice guidelines

Author: Antunes, M, Scire, C, Talarico, R, Alexander, T, Avcin, T, Belocchi, C, Doria, A, Franceschini, F, Galetti, I, Govoni, M, Hachulla, E, Launay, D, Lepri, G, Macieira, C, Matucci-Cerinic, M, Montecucco, C, Moraes-Fontes, M, Mouthon, L, Paolino, S, Ramoni, V, Tani, C, Tas, S, Tincani, A, Van Vollenhoven, R, Zen, M, Fonseca, J, Bombardieri, S, Schneider, M, Smith, V, Cutolo, M, Mosca, M, Beretta, L, Antunes M., Scire C. A., Talarico R., Alexander T., Avcin T., Belocchi C., Doria A., Franceschini F., Galetti I., Govoni M., Hachulla E., Launay D., Lepri G., Macieira C., Matucci-Cerinic M., Montecucco C. M., Moraes-Fontes M. F., Mouthon L., Paolino S., Ramoni V., Tani C., Tas S. W., Tincani A., Van Vollenhoven R., Zen M., Fonseca J., Bombardieri S., Fonseca J. E., Schneider M., Smith V., Cutolo M., Mosca M., Beretta L., Antunes, M, Scire, C, Talarico, R, Alexander, T, Avcin, T, Belocchi, C, Doria, A, Franceschini, F, Galetti, I, Govoni, M, Hachulla, E, Launay, D, Lepri, G, Macieira, C, Matucci-Cerinic, M, Montecucco, C, Moraes-Fontes, M, Mouthon, L, Paolino, S, Ramoni, V, Tani, C, Tas, S, Tincani, A, Van Vollenhoven, R, Zen, M, Fonseca, J, Bombardieri, S, Schneider, M, Smith, V, Cutolo, M, Mosca, M, Beretta, L, Antunes M., Scire C. A., Talarico R., Alexander T., Avcin T., Belocchi C., Doria A., Franceschini F., Galetti I., Govoni M., Hachulla E., Launay D., Lepri G., Macieira C., Matucci-Cerinic M., Montecucco C. M., Moraes-Fontes M. F., Mouthon L., Paolino S., Ramoni V., Tani C., Tas S. W., Tincani A., Van Vollenhoven R., Zen M., Fonseca J., Bombardieri S., Fonseca J. E., Schneider M., Smith V., Cutolo M., Mosca M., and Beretta L.
Abstract: The term a € undifferentiated connective tissue disease' (UCTD) is generally used to describe clinical entities characterised by clinical and serological manifestations of systemic autoimmune diseases but not fulfilling the criteria for defined connective tissue diseases (CTDs). In this narrative review, we summarise the results of a systematic literature research, which was performed as part of the ERN ReCONNET project, aimed at evaluating existing clinical practice guidelines (CPGs) or recommendations. No specific CPG on UCTD were found, potential areas of intervention are absence of a consensus definition of UCTD, need for specific monitoring and therapeutic protocols, stratification of UCTD based on the risk of developing a defined CTD and preventive measure for the future development of a more severe condition. Patients feel uncertainty regarding the name of the disease and feel the need of a better education and understanding of these conditions and its possible changes over time.
Published: 2019

20. Progressive interstitial lung disease in patients with systemic sclerosis-associated interstitial lung disease in the EUSTAR database

Author: Hoffmann-Vold, A.-M. Allanore, Y. Alves, M. Brunborg, C. Airó, P. Ananieva, L.P. Czirják, L. Guiducci, S. Hachulla, E. Li, M. Mihai, C. Riemekasten, G. Sfikakis, P.P. Kowal-Bielecka, O. Riccardi, A. Distler, O. and Hoffmann-Vold, A.-M. Allanore, Y. Alves, M. Brunborg, C. Airó, P. Ananieva, L.P. Czirják, L. Guiducci, S. Hachulla, E. Li, M. Mihai, C. Riemekasten, G. Sfikakis, P.P. Kowal-Bielecka, O. Riccardi, A. Distler, O.
Abstract: Objectives To identify overall disease course, progression patterns and risk factors predictive for progressive interstitial lung disease (ILD) in patients with systemic sclerosis-associated ILD (SSc-ILD), using data from the European Scleroderma Trials And Research (EUSTAR) database over long-term follow-up. Methods Eligible patients with SSc-ILD were registered in the EUSTAR database and had measurements of forced vital capacity (FVC) at baseline and after 12±3 months. Long-term progressive ILD and progression patterns were assessed in patients with multiple FVC measurements. Potential predictors of ILD progression were analysed using multivariable mixed-effect models. Results 826 patients with SSc-ILD were included. Over 12±3 months, 219 (27%) showed progressive ILD: either moderate (FVC decline 5% to 10%) or significant (FVC decline >10%). A total of 535 (65%) patients had multiple FVC measurements available over mean 5-year follow-up. In each 12-month period, 23% to 27% of SSc-ILD patients showed progressive ILD, but only a minority of patients showed progression in consecutive periods. Most patients with progressive ILD (58%) had a pattern of slow lung function decline, with more periods of stability/improvement than decline, whereas only 8% showed rapid, continuously declining FVC; 178 (33%) experienced no episode of FVC decline. The strongest predictive factors for FVC decline over 5 years were male sex, higher modified Rodnan skin score and reflux/dysphagia symptoms. Conclusion SSc-ILD shows a heterogeneous and variable disease course, and thus monitoring all patients closely is important. Novel treatment concepts, with treatment initiation before FVC decline occurs, should aim for prevention of progression to avoid irreversible organ damage. © Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY. Published by BMJ.
Published: 2021

21. EFFECTIVENESS AND SAFETY OF TOCILIZUMAB IN PATIENTS WITH SYSTEMIC SCLEROSIS: A PROPENSITY SCORE CONTROL MATCHED OBSERVATIONAL STUDY OF THE EUSTAR COHORT

Author: Kuster, S., Jordan, S., Elhai, M. D., Held, U., Steigmiller, K., Bruni, C., Iannone, F., Vettori, S., Siegert, E., Rednic, S., Codullo, V., Airo, P., Braun-Moscovici, Y., Hunzelmann, N., Salvador, M. J., Riccieri, V., Gheorghiu, A. M., Alegre Sancho, J. J., Romanowska-Prochnicka, K., Castellvi, I., Koetter, I., Truchetet, M. E., Lopez-Longo, F. J., Novikov, P., Giollo, A., Shirai, Y., Belloli, L., Zanatta, E., Hachulla, E., Smith, V., Denton, C., Ionescu, R., Schmeiser, T., Distler, J. H. W., Gabrielli, A., Hoffmann-Vold, A. M., Kuwana, M., Allanore, Y., Distler, O., Kuster, S., Jordan, S., Elhai, M. D., Held, U., Steigmiller, K., Bruni, C., Iannone, F., Vettori, S., Siegert, E., Rednic, S., Codullo, V., Airo, P., Braun-Moscovici, Y., Hunzelmann, N., Salvador, M. J., Riccieri, V., Gheorghiu, A. M., Alegre Sancho, J. J., Romanowska-Prochnicka, K., Castellvi, I., Koetter, I., Truchetet, M. E., Lopez-Longo, F. J., Novikov, P., Giollo, A., Shirai, Y., Belloli, L., Zanatta, E., Hachulla, E., Smith, V., Denton, C., Ionescu, R., Schmeiser, T., Distler, J. H. W., Gabrielli, A., Hoffmann-Vold, A. M., Kuwana, M., Allanore, Y., and Distler, O.
Published: 2021

22. PATIENT PREFERENCES, TRADE-OFFS AND ACCEPTABLE RISKS IN THE TREATMENT OF SYSTEMIC SCLEROSIS-ASSOCIATED INTERSTITIAL LUNG DISEASE: A STEP TOWARDS SHARED DECISION-MAKING

Author: Bruni, C., Heidenreich, S., Duenas, A., Hoffmann-Vold, A. M., Gabrielli, A., Allanore, Y., Chatelus, E., Distler, J. H. W., Hachulla, E., Hsu, V., Hunzelmann, N., Khanna, D., Truchetet, M. E., Walker, U., Alves, M., Schoof, N., Saketkoo, L. A., Distler, O., Bruni, C., Heidenreich, S., Duenas, A., Hoffmann-Vold, A. M., Gabrielli, A., Allanore, Y., Chatelus, E., Distler, J. H. W., Hachulla, E., Hsu, V., Hunzelmann, N., Khanna, D., Truchetet, M. E., Walker, U., Alves, M., Schoof, N., Saketkoo, L. A., and Distler, O.
Published: 2021

23. EFFECTIVENESS AND SAFETY OF TOCILIZUMAB IN PATIENTS WITH SYSTEMIC SCLEROSIS: A PROPENSITY SCORE CONTROL MATCHED OBSERVATIONAL STUDY OF THE EUSTAR COHORT

Author: Kuster, S., Jordan, S., Elhai, M. D., Held, U., Steigmiller, K., Bruni, C., Iannone, F., Vettori, S., Siegert, E., Rednic, S., Codullo, V., Airo, P., Braun-Moscovici, Y., Hunzelmann, N., Salvador, M. J., Riccieri, V., Gheorghiu, A. M., Alegre Sancho, J. J., Romanowska-Prochnicka, K., Castellvi, I., Koetter, I., Truchetet, M. E., Lopez-Longo, F. J., Novikov, P., Giollo, A., Shirai, Y., Belloli, L., Zanatta, E., Hachulla, E., Smith, V., Denton, C., Ionescu, R., Schmeiser, T., Distler, J. H. W., Gabrielli, A., Hoffmann-Vold, A. M., Kuwana, M., Allanore, Y., Distler, O., Kuster, S., Jordan, S., Elhai, M. D., Held, U., Steigmiller, K., Bruni, C., Iannone, F., Vettori, S., Siegert, E., Rednic, S., Codullo, V., Airo, P., Braun-Moscovici, Y., Hunzelmann, N., Salvador, M. J., Riccieri, V., Gheorghiu, A. M., Alegre Sancho, J. J., Romanowska-Prochnicka, K., Castellvi, I., Koetter, I., Truchetet, M. E., Lopez-Longo, F. J., Novikov, P., Giollo, A., Shirai, Y., Belloli, L., Zanatta, E., Hachulla, E., Smith, V., Denton, C., Ionescu, R., Schmeiser, T., Distler, J. H. W., Gabrielli, A., Hoffmann-Vold, A. M., Kuwana, M., Allanore, Y., and Distler, O.
Published: 2021

24. PATIENT PREFERENCES, TRADE-OFFS AND ACCEPTABLE RISKS IN THE TREATMENT OF SYSTEMIC SCLEROSIS-ASSOCIATED INTERSTITIAL LUNG DISEASE: A STEP TOWARDS SHARED DECISION-MAKING

Author: Bruni, C., Heidenreich, S., Duenas, A., Hoffmann-Vold, A. M., Gabrielli, A., Allanore, Y., Chatelus, E., Distler, J. H. W., Hachulla, E., Hsu, V., Hunzelmann, N., Khanna, D., Truchetet, M. E., Walker, U., Alves, M., Schoof, N., Saketkoo, L. A., Distler, O., Bruni, C., Heidenreich, S., Duenas, A., Hoffmann-Vold, A. M., Gabrielli, A., Allanore, Y., Chatelus, E., Distler, J. H. W., Hachulla, E., Hsu, V., Hunzelmann, N., Khanna, D., Truchetet, M. E., Walker, U., Alves, M., Schoof, N., Saketkoo, L. A., and Distler, O.
Published: 2021

25. The impact of COVID-19 on rare and complex connective tissue diseases: the experience of ERN ReCONNET

Author: Talarico, R, Aguilera, S, Alexander, T, Amoura, Z, Antunes, AMC, Arnaud, L, Avcin, T, Beretta, L, Bombardieri, S, Burmester, GR, Cannizzo, S, Cavagna, L, Chaigne, B, Cornet, A, Costedoat-Chalumeau, N, Doria, A, Ferraris, A, Fischer-Betz, R, Fonseca, JE, Frank, C, Gaglioti, A, Galetti, I, Grunert, J, Guimaraes, V, Hachulla, E, Houssiau, F, Iaccarino, L, Krieg, T, Limper, M, Malfait, F, Mariette, X, Marinello, D, Martin, T, Matthews, L, Matucci-Cerinic, M, Meyer, A, Montecucco, C, Mouthon, L, Muller-Ladner, U, Rednic, S, Romao, VC, Schneider, M, Smith, V, Sulli, A, Tamirou, F, Taruscio, D, Taulaigo, AV, Terol, E, Tincani, A, Ticciati, S, Turchetti, G, van Hagen, P.M., van Laar, JM, Vieira, A, de Vries-Bouwstra, JK, Cutolo, M, Mosca, M, Talarico, R, Aguilera, S, Alexander, T, Amoura, Z, Antunes, AMC, Arnaud, L, Avcin, T, Beretta, L, Bombardieri, S, Burmester, GR, Cannizzo, S, Cavagna, L, Chaigne, B, Cornet, A, Costedoat-Chalumeau, N, Doria, A, Ferraris, A, Fischer-Betz, R, Fonseca, JE, Frank, C, Gaglioti, A, Galetti, I, Grunert, J, Guimaraes, V, Hachulla, E, Houssiau, F, Iaccarino, L, Krieg, T, Limper, M, Malfait, F, Mariette, X, Marinello, D, Martin, T, Matthews, L, Matucci-Cerinic, M, Meyer, A, Montecucco, C, Mouthon, L, Muller-Ladner, U, Rednic, S, Romao, VC, Schneider, M, Smith, V, Sulli, A, Tamirou, F, Taruscio, D, Taulaigo, AV, Terol, E, Tincani, A, Ticciati, S, Turchetti, G, van Hagen, P.M., van Laar, JM, Vieira, A, de Vries-Bouwstra, JK, Cutolo, M, and Mosca, M
Abstract: During the COVID-19 pandemic, the need to provide high-level care for a large number of patients with COVID-19 has affected resourcing for, and limited the routine care of, all other conditions. The impact of this health emergency is particularly relevant in the rare connective tissue diseases (rCTDs) communities, as discussed in this Perspective article by the multi-stakeholder European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases (ERN ReCONNET). The clinical, organizational and health economic challenges faced by health-care providers, institutions, patients and their families during the SARS-CoV-2 outbreak have demonstrated the importance of ensuring continuity of care in the management of rCTDs, including adequate diagnostics and monitoring protocols, and highlighted the need for a structured emergency strategy. The vulnerability of patients with rCTDs needs to be taken into account when planning future health policies, in preparation for not only the post-COVID era, but also any possible new health emergencies.
Published: 2021

26. Antiphospholipid syndrome: State of the art on clinical practice guidelines

Author: Limper, M, Scire, C, Talarico, R, Amoura, Z, Avcin, T, Basile, M, Burmester, G, Carli, L, Cervera, R, Costedoat-Chalumeau, N, Doria, A, Dorner, T, Fonseca, J, Galetti, I, Hachulla, E, Launay, D, Lourenco, F, Macieira, C, Meroni, P, Montecucco, C, Moraes-Fontes, M, Mouthon, L, Nalli, C, Ramoni, V, Tektonidou, M, Van Laar, J, Bombardieri, S, Schneider, M, Smith, V, Vieira, A, Cutolo, M, Mosca, M, Tincani, A, Limper M., Scire C. A., Talarico R., Amoura Z., Avcin T., Basile M., Burmester G., Carli L., Cervera R., Costedoat-Chalumeau N., Doria A., Dorner T., Fonseca J. E., Galetti I., Hachulla E., Launay D., Lourenco F., Macieira C., Meroni P., Montecucco C. M., Moraes-Fontes M. F., Mouthon L., Nalli C., Ramoni V., Tektonidou M., Van Laar J. M., Bombardieri S., Schneider M., Smith V., Vieira A., Cutolo M., Mosca M., Tincani A., Limper, M, Scire, C, Talarico, R, Amoura, Z, Avcin, T, Basile, M, Burmester, G, Carli, L, Cervera, R, Costedoat-Chalumeau, N, Doria, A, Dorner, T, Fonseca, J, Galetti, I, Hachulla, E, Launay, D, Lourenco, F, Macieira, C, Meroni, P, Montecucco, C, Moraes-Fontes, M, Mouthon, L, Nalli, C, Ramoni, V, Tektonidou, M, Van Laar, J, Bombardieri, S, Schneider, M, Smith, V, Vieira, A, Cutolo, M, Mosca, M, Tincani, A, Limper M., Scire C. A., Talarico R., Amoura Z., Avcin T., Basile M., Burmester G., Carli L., Cervera R., Costedoat-Chalumeau N., Doria A., Dorner T., Fonseca J. E., Galetti I., Hachulla E., Launay D., Lourenco F., Macieira C., Meroni P., Montecucco C. M., Moraes-Fontes M. F., Mouthon L., Nalli C., Ramoni V., Tektonidou M., Van Laar J. M., Bombardieri S., Schneider M., Smith V., Vieira A., Cutolo M., Mosca M., and Tincani A.
Abstract: Antiphospholipid syndrome (APS) is a rare disease characterised by venous and/or arterial thrombosis, pregnancy complications and the presence of specific autoantibodies called antiphospholipid antibodies. This review aims to identify existing clinical practice guidelines (CPG) as part of the ERN ReCONNET project, aimed at evaluating existing CPGs or recommendations in rare and complex diseases. Seventeen papers providing important data were identified; however, the literature search highlighted the scarceness of reliable clinical data to develop CPGs. With no formal clinical guidelines in place, diagnosis and treatment of APS is largely based on consensus and expert opinion. Patients' unmet need refers to the understanding of the disease and its clinical picture and implications, the need of education for patients, family members and healthcare providers, as well as to the development of monitoring pathways involving multiple healthcare providers.
Published: 2018

27. Systemic sclerosis: State of the art on clinical practice guidelines

Author: Smith, V, Scire, C, Talarico, R, Airo, P, Alexander, T, Allanore, Y, Bruni, C, Codullo, V, Dalm, V, De Vries-Bouwstra, J, Della Rossa, A, Distler, O, Galetti, I, Launay, D, Lepri, G, Mathian, A, Mouthon, L, Ruaro, B, Sulli, A, Tincani, A, Vandecasteele, E, Vanhaecke, A, Vanthuyne, M, Van Den Hoogen, F, Van Vollenhoven, R, Voskuyl, A, Zanatta, E, Bombardieri, S, Burmester, G, Eurico, F, Frank, C, Hachulla, E, Houssiau, F, Mueller-Ladner, U, Schneider, M, Van Laar, J, Vieira, A, Cutolo, M, Mosca, M, Matucci-Cerinic, M, Smith V., Scire C. A., Talarico R., Airo P., Alexander T., Allanore Y., Bruni C., Codullo V., Dalm V., De Vries-Bouwstra J., Della Rossa A., Distler O., Galetti I., Launay D., Lepri G., Mathian A., Mouthon L., Ruaro B., Sulli A., Tincani A., Vandecasteele E., Vanhaecke A., Vanthuyne M., Van Den Hoogen F., Van Vollenhoven R., Voskuyl A. E., Zanatta E., Bombardieri S., Burmester G., Eurico F. J., Frank C., Hachulla E., Houssiau F., Mueller-Ladner U., Schneider M., Van Laar J. M., Vieira A., Cutolo M., Mosca M., Matucci-Cerinic M., Smith, V, Scire, C, Talarico, R, Airo, P, Alexander, T, Allanore, Y, Bruni, C, Codullo, V, Dalm, V, De Vries-Bouwstra, J, Della Rossa, A, Distler, O, Galetti, I, Launay, D, Lepri, G, Mathian, A, Mouthon, L, Ruaro, B, Sulli, A, Tincani, A, Vandecasteele, E, Vanhaecke, A, Vanthuyne, M, Van Den Hoogen, F, Van Vollenhoven, R, Voskuyl, A, Zanatta, E, Bombardieri, S, Burmester, G, Eurico, F, Frank, C, Hachulla, E, Houssiau, F, Mueller-Ladner, U, Schneider, M, Van Laar, J, Vieira, A, Cutolo, M, Mosca, M, Matucci-Cerinic, M, Smith V., Scire C. A., Talarico R., Airo P., Alexander T., Allanore Y., Bruni C., Codullo V., Dalm V., De Vries-Bouwstra J., Della Rossa A., Distler O., Galetti I., Launay D., Lepri G., Mathian A., Mouthon L., Ruaro B., Sulli A., Tincani A., Vandecasteele E., Vanhaecke A., Vanthuyne M., Van Den Hoogen F., Van Vollenhoven R., Voskuyl A. E., Zanatta E., Bombardieri S., Burmester G., Eurico F. J., Frank C., Hachulla E., Houssiau F., Mueller-Ladner U., Schneider M., Van Laar J. M., Vieira A., Cutolo M., Mosca M., and Matucci-Cerinic M.
Abstract: Systemic sclerosis (SSc) is an orphan disease characterised by autoimmunity, fibrosis of the skin and internal organs, and vasculopathy. SSc may be associated with high morbidity and mortality. In this narrative review we summarise the results of a systematic literature research, which was performed as part of the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases project, aimed at evaluating existing clinical practice guidelines or recommendations. Only in the domains 'Vascular & Ulcers' (ie, non-pharmacological approach to digital ulcer), 'PAH' (ie, screening and treatment), 'Treatment' and 'Juveniles' (ie, evaluation of juveniles with Raynaud's phenomenon) evidence-based and consensus-based guidelines could be included. Hence there is a preponderance of unmet needs in SSc referring to the diagnosis and (non-)pharmacological treatment of several SSc-specific complications. Patients with SSc experience significant uncertainty concerning SSc-related taxonomy, management (both pharmacological and nonpharmacological) and education. Day-to-day impact of the disease (loss of self-esteem, fatigue, sexual dysfunction, and occupational, nutritional and relational problems) is underestimated and needs evaluation.
Published: 2018

28. Sjögren's syndrome: State of the art on clinical practice guidelines

Author: Romao, V, Talarico, R, Scire, C, Vieira, A, Alexander, T, Baldini, C, Gottenberg, J, Gruner, H, Hachulla, E, Mouthon, L, Orlandi, M, Pamfil, C, Pineton De Chambrun, M, Taglietti, M, Toplak, N, Van Daele, P, Van Laar, J, Bombardieri, S, Schneider, M, Smith, V, Cutolo, M, Mosca, M, Mariette, X, Romao V. C., Talarico R., Scire C. A., Vieira A., Alexander T., Baldini C., Gottenberg J. -E., Gruner H., Hachulla E., Mouthon L., Orlandi M., Pamfil C., Pineton De Chambrun M., Taglietti M., Toplak N., Van Daele P., Van Laar J. M., Bombardieri S., Schneider M., Smith V., Cutolo M., Mosca M., Mariette X., Romao, V, Talarico, R, Scire, C, Vieira, A, Alexander, T, Baldini, C, Gottenberg, J, Gruner, H, Hachulla, E, Mouthon, L, Orlandi, M, Pamfil, C, Pineton De Chambrun, M, Taglietti, M, Toplak, N, Van Daele, P, Van Laar, J, Bombardieri, S, Schneider, M, Smith, V, Cutolo, M, Mosca, M, Mariette, X, Romao V. C., Talarico R., Scire C. A., Vieira A., Alexander T., Baldini C., Gottenberg J. -E., Gruner H., Hachulla E., Mouthon L., Orlandi M., Pamfil C., Pineton De Chambrun M., Taglietti M., Toplak N., Van Daele P., Van Laar J. M., Bombardieri S., Schneider M., Smith V., Cutolo M., Mosca M., and Mariette X.
Abstract: Sjögren's syndrome (SS) is a complex autoimmune rheumatic disease that specifically targets salivary and lachrymal glands. As such, patients typically had ocular and oral dryness and salivary gland swelling. Moreover, skin, nasal and vaginal dryness are frequently present. In addition to dryness, musculoskeletal pain and fatigue are the hallmarks of this disease and constitute the classic symptom triad presented by the vast majority of patients. Up to 30% to 50 % of patients with SS may present systemic disease; moreover, there is an increased risk for the development of non-Hodgkin's lymphoma that occurs in a minority of patients. The present work was developed in the framework of the European Reference Network (ERN) dedicated to Rare and Complex Connective Tissue and Musculoskeletal Diseases (ReCONNET). In line with its goals of aiming to improve early diagnosis, treatment and care of rare connective and musculoskeletal diseases, ERN-ReCONNET set to review the current state of clinical practice guidelines (CPGs) in the rare and complex connective tissue diseases of interest of the network. Therefore, the present work was aimed at providing a state of the art of CPGs for SS.
Published: 2018

29. Systemic lupus erythematosus: State of the art on clinical practice guidelines

Author: Tamirou, F, Arnaud, L, Talarico, R, Scire, C, Alexander, T, Amoura, Z, Avcin, T, Bortoluzzi, A, Cervera, R, Conti, F, Cornet, A, Devilliers, H, Doria, A, Frassi, M, Fredi, M, Govoni, M, Houssiau, F, Llado, A, Macieira, C, Martin, T, Massaro, L, Moraes-Fontes, M, Pamfil, C, Paolino, S, Tani, C, Tas, S, Tektonidou, M, Tincani, A, Van Vollenhoven, R, Bombardieri, S, Burmester, G, Eurico, F, Galetti, I, Hachulla, E, Mueller-Ladner, U, Schneider, M, Smith, V, Cutolo, M, Mosca, M, Costedoat-Chalumeau, N, Tamirou F., Arnaud L., Talarico R., Scire C. A., Alexander T., Amoura Z., Avcin T., Bortoluzzi A., Cervera R., Conti F., Cornet A., Devilliers H., Doria A., Frassi M., Fredi M., Govoni M., Houssiau F., Llado A., Macieira C., Martin T., Massaro L., Moraes-Fontes M. F., Pamfil C., Paolino S., Tani C., Tas S. W., Tektonidou M., Tincani A., Van Vollenhoven R. F., Bombardieri S., Burmester G., Eurico F. J., Galetti I., Hachulla E., Mueller-Ladner U., Schneider M., Smith V., Cutolo M., Mosca M., Costedoat-Chalumeau N., Tamirou, F, Arnaud, L, Talarico, R, Scire, C, Alexander, T, Amoura, Z, Avcin, T, Bortoluzzi, A, Cervera, R, Conti, F, Cornet, A, Devilliers, H, Doria, A, Frassi, M, Fredi, M, Govoni, M, Houssiau, F, Llado, A, Macieira, C, Martin, T, Massaro, L, Moraes-Fontes, M, Pamfil, C, Paolino, S, Tani, C, Tas, S, Tektonidou, M, Tincani, A, Van Vollenhoven, R, Bombardieri, S, Burmester, G, Eurico, F, Galetti, I, Hachulla, E, Mueller-Ladner, U, Schneider, M, Smith, V, Cutolo, M, Mosca, M, Costedoat-Chalumeau, N, Tamirou F., Arnaud L., Talarico R., Scire C. A., Alexander T., Amoura Z., Avcin T., Bortoluzzi A., Cervera R., Conti F., Cornet A., Devilliers H., Doria A., Frassi M., Fredi M., Govoni M., Houssiau F., Llado A., Macieira C., Martin T., Massaro L., Moraes-Fontes M. F., Pamfil C., Paolino S., Tani C., Tas S. W., Tektonidou M., Tincani A., Van Vollenhoven R. F., Bombardieri S., Burmester G., Eurico F. J., Galetti I., Hachulla E., Mueller-Ladner U., Schneider M., Smith V., Cutolo M., Mosca M., and Costedoat-Chalumeau N.
Abstract: Systemic lupus erythematosus (SLE) is the paradigm of systemic autoimmune diseases characterised by a wide spectrum of clinical manifestations with an unpredictable relapsing-remitting course. The aim of the present work was to identify current available clinical practice guidelines (CPGs) for SLE, to provide their review and to identify physicians' and patients' unmet needs. Twenty-Three original guidelines published between 2004 and 2017 were identified. Many aspects of disease management are covered, including global disease management, lupus nephritis and neuropsychiatric involvement, management of pregnancies, vaccinations and comorbidities monitoring. Unmet needs relate with disease management of some clinical manifestations and adherence to treatment. Many patient's unmet needs have been identified starting with faster diagnosis, need for more therapeutic options, guidelines on lifestyle issues, attention to quality of life and adequate education.
Published: 2018

30. Sjögren's syndrome: State of the art on clinical practice guidelines

Author: Romao, V, Talarico, R, Scire, C, Vieira, A, Alexander, T, Baldini, C, Gottenberg, J, Gruner, H, Hachulla, E, Mouthon, L, Orlandi, M, Pamfil, C, Pineton De Chambrun, M, Taglietti, M, Toplak, N, Van Daele, P, Van Laar, J, Bombardieri, S, Schneider, M, Smith, V, Cutolo, M, Mosca, M, Mariette, X, Romao V. C., Talarico R., Scire C. A., Vieira A., Alexander T., Baldini C., Gottenberg J. -E., Gruner H., Hachulla E., Mouthon L., Orlandi M., Pamfil C., Pineton De Chambrun M., Taglietti M., Toplak N., Van Daele P., Van Laar J. M., Bombardieri S., Schneider M., Smith V., Cutolo M., Mosca M., Mariette X., Romao, V, Talarico, R, Scire, C, Vieira, A, Alexander, T, Baldini, C, Gottenberg, J, Gruner, H, Hachulla, E, Mouthon, L, Orlandi, M, Pamfil, C, Pineton De Chambrun, M, Taglietti, M, Toplak, N, Van Daele, P, Van Laar, J, Bombardieri, S, Schneider, M, Smith, V, Cutolo, M, Mosca, M, Mariette, X, Romao V. C., Talarico R., Scire C. A., Vieira A., Alexander T., Baldini C., Gottenberg J. -E., Gruner H., Hachulla E., Mouthon L., Orlandi M., Pamfil C., Pineton De Chambrun M., Taglietti M., Toplak N., Van Daele P., Van Laar J. M., Bombardieri S., Schneider M., Smith V., Cutolo M., Mosca M., and Mariette X.
Abstract: Sjögren's syndrome (SS) is a complex autoimmune rheumatic disease that specifically targets salivary and lachrymal glands. As such, patients typically had ocular and oral dryness and salivary gland swelling. Moreover, skin, nasal and vaginal dryness are frequently present. In addition to dryness, musculoskeletal pain and fatigue are the hallmarks of this disease and constitute the classic symptom triad presented by the vast majority of patients. Up to 30% to 50 % of patients with SS may present systemic disease; moreover, there is an increased risk for the development of non-Hodgkin's lymphoma that occurs in a minority of patients. The present work was developed in the framework of the European Reference Network (ERN) dedicated to Rare and Complex Connective Tissue and Musculoskeletal Diseases (ReCONNET). In line with its goals of aiming to improve early diagnosis, treatment and care of rare connective and musculoskeletal diseases, ERN-ReCONNET set to review the current state of clinical practice guidelines (CPGs) in the rare and complex connective tissue diseases of interest of the network. Therefore, the present work was aimed at providing a state of the art of CPGs for SS.
Published: 2018

31. Systemic sclerosis: State of the art on clinical practice guidelines

Author: Smith, V, Scire, C, Talarico, R, Airo, P, Alexander, T, Allanore, Y, Bruni, C, Codullo, V, Dalm, V, De Vries-Bouwstra, J, Della Rossa, A, Distler, O, Galetti, I, Launay, D, Lepri, G, Mathian, A, Mouthon, L, Ruaro, B, Sulli, A, Tincani, A, Vandecasteele, E, Vanhaecke, A, Vanthuyne, M, Van Den Hoogen, F, Van Vollenhoven, R, Voskuyl, A, Zanatta, E, Bombardieri, S, Burmester, G, Eurico, F, Frank, C, Hachulla, E, Houssiau, F, Mueller-Ladner, U, Schneider, M, Van Laar, J, Vieira, A, Cutolo, M, Mosca, M, Matucci-Cerinic, M, Smith V., Scire C. A., Talarico R., Airo P., Alexander T., Allanore Y., Bruni C., Codullo V., Dalm V., De Vries-Bouwstra J., Della Rossa A., Distler O., Galetti I., Launay D., Lepri G., Mathian A., Mouthon L., Ruaro B., Sulli A., Tincani A., Vandecasteele E., Vanhaecke A., Vanthuyne M., Van Den Hoogen F., Van Vollenhoven R., Voskuyl A. E., Zanatta E., Bombardieri S., Burmester G., Eurico F. J., Frank C., Hachulla E., Houssiau F., Mueller-Ladner U., Schneider M., Van Laar J. M., Vieira A., Cutolo M., Mosca M., Matucci-Cerinic M., Smith, V, Scire, C, Talarico, R, Airo, P, Alexander, T, Allanore, Y, Bruni, C, Codullo, V, Dalm, V, De Vries-Bouwstra, J, Della Rossa, A, Distler, O, Galetti, I, Launay, D, Lepri, G, Mathian, A, Mouthon, L, Ruaro, B, Sulli, A, Tincani, A, Vandecasteele, E, Vanhaecke, A, Vanthuyne, M, Van Den Hoogen, F, Van Vollenhoven, R, Voskuyl, A, Zanatta, E, Bombardieri, S, Burmester, G, Eurico, F, Frank, C, Hachulla, E, Houssiau, F, Mueller-Ladner, U, Schneider, M, Van Laar, J, Vieira, A, Cutolo, M, Mosca, M, Matucci-Cerinic, M, Smith V., Scire C. A., Talarico R., Airo P., Alexander T., Allanore Y., Bruni C., Codullo V., Dalm V., De Vries-Bouwstra J., Della Rossa A., Distler O., Galetti I., Launay D., Lepri G., Mathian A., Mouthon L., Ruaro B., Sulli A., Tincani A., Vandecasteele E., Vanhaecke A., Vanthuyne M., Van Den Hoogen F., Van Vollenhoven R., Voskuyl A. E., Zanatta E., Bombardieri S., Burmester G., Eurico F. J., Frank C., Hachulla E., Houssiau F., Mueller-Ladner U., Schneider M., Van Laar J. M., Vieira A., Cutolo M., Mosca M., and Matucci-Cerinic M.
Abstract: Systemic sclerosis (SSc) is an orphan disease characterised by autoimmunity, fibrosis of the skin and internal organs, and vasculopathy. SSc may be associated with high morbidity and mortality. In this narrative review we summarise the results of a systematic literature research, which was performed as part of the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases project, aimed at evaluating existing clinical practice guidelines or recommendations. Only in the domains 'Vascular & Ulcers' (ie, non-pharmacological approach to digital ulcer), 'PAH' (ie, screening and treatment), 'Treatment' and 'Juveniles' (ie, evaluation of juveniles with Raynaud's phenomenon) evidence-based and consensus-based guidelines could be included. Hence there is a preponderance of unmet needs in SSc referring to the diagnosis and (non-)pharmacological treatment of several SSc-specific complications. Patients with SSc experience significant uncertainty concerning SSc-related taxonomy, management (both pharmacological and nonpharmacological) and education. Day-to-day impact of the disease (loss of self-esteem, fatigue, sexual dysfunction, and occupational, nutritional and relational problems) is underestimated and needs evaluation.
Published: 2018

32. Systemic lupus erythematosus: State of the art on clinical practice guidelines

Author: Tamirou, F, Arnaud, L, Talarico, R, Scire, C, Alexander, T, Amoura, Z, Avcin, T, Bortoluzzi, A, Cervera, R, Conti, F, Cornet, A, Devilliers, H, Doria, A, Frassi, M, Fredi, M, Govoni, M, Houssiau, F, Llado, A, Macieira, C, Martin, T, Massaro, L, Moraes-Fontes, M, Pamfil, C, Paolino, S, Tani, C, Tas, S, Tektonidou, M, Tincani, A, Van Vollenhoven, R, Bombardieri, S, Burmester, G, Eurico, F, Galetti, I, Hachulla, E, Mueller-Ladner, U, Schneider, M, Smith, V, Cutolo, M, Mosca, M, Costedoat-Chalumeau, N, Tamirou F., Arnaud L., Talarico R., Scire C. A., Alexander T., Amoura Z., Avcin T., Bortoluzzi A., Cervera R., Conti F., Cornet A., Devilliers H., Doria A., Frassi M., Fredi M., Govoni M., Houssiau F., Llado A., Macieira C., Martin T., Massaro L., Moraes-Fontes M. F., Pamfil C., Paolino S., Tani C., Tas S. W., Tektonidou M., Tincani A., Van Vollenhoven R. F., Bombardieri S., Burmester G., Eurico F. J., Galetti I., Hachulla E., Mueller-Ladner U., Schneider M., Smith V., Cutolo M., Mosca M., Costedoat-Chalumeau N., Tamirou, F, Arnaud, L, Talarico, R, Scire, C, Alexander, T, Amoura, Z, Avcin, T, Bortoluzzi, A, Cervera, R, Conti, F, Cornet, A, Devilliers, H, Doria, A, Frassi, M, Fredi, M, Govoni, M, Houssiau, F, Llado, A, Macieira, C, Martin, T, Massaro, L, Moraes-Fontes, M, Pamfil, C, Paolino, S, Tani, C, Tas, S, Tektonidou, M, Tincani, A, Van Vollenhoven, R, Bombardieri, S, Burmester, G, Eurico, F, Galetti, I, Hachulla, E, Mueller-Ladner, U, Schneider, M, Smith, V, Cutolo, M, Mosca, M, Costedoat-Chalumeau, N, Tamirou F., Arnaud L., Talarico R., Scire C. A., Alexander T., Amoura Z., Avcin T., Bortoluzzi A., Cervera R., Conti F., Cornet A., Devilliers H., Doria A., Frassi M., Fredi M., Govoni M., Houssiau F., Llado A., Macieira C., Martin T., Massaro L., Moraes-Fontes M. F., Pamfil C., Paolino S., Tani C., Tas S. W., Tektonidou M., Tincani A., Van Vollenhoven R. F., Bombardieri S., Burmester G., Eurico F. J., Galetti I., Hachulla E., Mueller-Ladner U., Schneider M., Smith V., Cutolo M., Mosca M., and Costedoat-Chalumeau N.
Abstract: Systemic lupus erythematosus (SLE) is the paradigm of systemic autoimmune diseases characterised by a wide spectrum of clinical manifestations with an unpredictable relapsing-remitting course. The aim of the present work was to identify current available clinical practice guidelines (CPGs) for SLE, to provide their review and to identify physicians' and patients' unmet needs. Twenty-Three original guidelines published between 2004 and 2017 were identified. Many aspects of disease management are covered, including global disease management, lupus nephritis and neuropsychiatric involvement, management of pregnancies, vaccinations and comorbidities monitoring. Unmet needs relate with disease management of some clinical manifestations and adherence to treatment. Many patient's unmet needs have been identified starting with faster diagnosis, need for more therapeutic options, guidelines on lifestyle issues, attention to quality of life and adequate education.
Published: 2018

33. Antiphospholipid syndrome: State of the art on clinical practice guidelines

Author: Limper, M, Scire, C, Talarico, R, Amoura, Z, Avcin, T, Basile, M, Burmester, G, Carli, L, Cervera, R, Costedoat-Chalumeau, N, Doria, A, Dorner, T, Fonseca, J, Galetti, I, Hachulla, E, Launay, D, Lourenco, F, Macieira, C, Meroni, P, Montecucco, C, Moraes-Fontes, M, Mouthon, L, Nalli, C, Ramoni, V, Tektonidou, M, Van Laar, J, Bombardieri, S, Schneider, M, Smith, V, Vieira, A, Cutolo, M, Mosca, M, Tincani, A, Limper M., Scire C. A., Talarico R., Amoura Z., Avcin T., Basile M., Burmester G., Carli L., Cervera R., Costedoat-Chalumeau N., Doria A., Dorner T., Fonseca J. E., Galetti I., Hachulla E., Launay D., Lourenco F., Macieira C., Meroni P., Montecucco C. M., Moraes-Fontes M. F., Mouthon L., Nalli C., Ramoni V., Tektonidou M., Van Laar J. M., Bombardieri S., Schneider M., Smith V., Vieira A., Cutolo M., Mosca M., Tincani A., Limper, M, Scire, C, Talarico, R, Amoura, Z, Avcin, T, Basile, M, Burmester, G, Carli, L, Cervera, R, Costedoat-Chalumeau, N, Doria, A, Dorner, T, Fonseca, J, Galetti, I, Hachulla, E, Launay, D, Lourenco, F, Macieira, C, Meroni, P, Montecucco, C, Moraes-Fontes, M, Mouthon, L, Nalli, C, Ramoni, V, Tektonidou, M, Van Laar, J, Bombardieri, S, Schneider, M, Smith, V, Vieira, A, Cutolo, M, Mosca, M, Tincani, A, Limper M., Scire C. A., Talarico R., Amoura Z., Avcin T., Basile M., Burmester G., Carli L., Cervera R., Costedoat-Chalumeau N., Doria A., Dorner T., Fonseca J. E., Galetti I., Hachulla E., Launay D., Lourenco F., Macieira C., Meroni P., Montecucco C. M., Moraes-Fontes M. F., Mouthon L., Nalli C., Ramoni V., Tektonidou M., Van Laar J. M., Bombardieri S., Schneider M., Smith V., Vieira A., Cutolo M., Mosca M., and Tincani A.
Abstract: Antiphospholipid syndrome (APS) is a rare disease characterised by venous and/or arterial thrombosis, pregnancy complications and the presence of specific autoantibodies called antiphospholipid antibodies. This review aims to identify existing clinical practice guidelines (CPG) as part of the ERN ReCONNET project, aimed at evaluating existing CPGs or recommendations in rare and complex diseases. Seventeen papers providing important data were identified; however, the literature search highlighted the scarceness of reliable clinical data to develop CPGs. With no formal clinical guidelines in place, diagnosis and treatment of APS is largely based on consensus and expert opinion. Patients' unmet need refers to the understanding of the disease and its clinical picture and implications, the need of education for patients, family members and healthcare providers, as well as to the development of monitoring pathways involving multiple healthcare providers.
Published: 2018

34. Bortezomib, melphalan, and dexamethasone for light-chain amyloidosis

Author: Kastritis, E. Leleu, X. Arnulf, B. Zamagni, E. Cibeira, M.T. Kwok, F. Mollee, P. Hajek, R. Moreau, P. Jaccard, A. Schonland, S.O. Filshie, R. Nicolas-Virelizier, E. Augustson, B. Mateos, M.-V. Wechalekar, A. Hachulla, E. Milani, P. Dimopoulos, M.A. Fermand, J.-P. Foli, A. Gavriatopoulou, M. Klersy, C. Palumbo, A. Sonneveld, P. Erik Johnsen, H. Merlini, G. Palladini, G. and Kastritis, E. Leleu, X. Arnulf, B. Zamagni, E. Cibeira, M.T. Kwok, F. Mollee, P. Hajek, R. Moreau, P. Jaccard, A. Schonland, S.O. Filshie, R. Nicolas-Virelizier, E. Augustson, B. Mateos, M.-V. Wechalekar, A. Hachulla, E. Milani, P. Dimopoulos, M.A. Fermand, J.-P. Foli, A. Gavriatopoulou, M. Klersy, C. Palumbo, A. Sonneveld, P. Erik Johnsen, H. Merlini, G. Palladini, G.
Abstract: PURPOSE Oral melphalan and dexamethasone (MDex) were considered a standard of care in light-chain (AL) amyloidosis. In the past decade, bortezomib has been increasingly used in combination with alkylating agents and dexamethasone. We prospectively compared the efficacy and safety of MDex and MDex with the addition of bortezomib (BMDex). METHODS This was a phase III, multicenter, randomized, open-label trial. Patients were stratified according to cardiac stage. Patients with advanced cardiac stage (stage IIIb) amyloidosis were not eligible. The primary end point was hematologic response rate at 3 months. This trial is registered with ClinicalTrials.gov identifier NCT01277016. RESULTS A total of 109 patients, 53 in the BMDex and 56 in the MDex group, received $1 dose of therapy (from January 2011 to February 2016). Hematologic response rate at 3 months was higher in the BMDex arm (79% v 52%; P 5 .002). Higher rates of very good partial or complete response rates (64% v 39%; hazard ratio [HR], 2.47; 95% CI, 1.30 to 4.71) and improved overall survival, with a 2-fold decrease in mortality rate (HR, 0.50; 95% CI, 0.27 to 0.90), were observed in the BMDex arm. Grade 3 and 4 adverse events (the most common being cytopenia, peripheral neuropathy, and heart failure) were more common in the BMDex arm, occurring in 20% versus 10% of cycles performed. CONCLUSION BMDex improved hematologic response rate and overall survival. To our knowledge, this is the first time a controlled study has demonstrated a survival advantage in AL amyloidosis. BMDex should be considered a new standard of care for AL amyloidosis. © 2020 by American Society of Clinical Oncology.
Published: 2020

35. Standardisation of nailfold capillaroscopy for the assessment of patients with Raynaud's phenomenon and systemic sclerosis

Author: Smith, V., Herrick, A.L., Ingegnoli, F., Damjanov, N., Angelis, R. De, Denton, C.P., Distler, O., Espejo, K., Foeldvari, I., Frech, T., Garro, B., Gutierrez, M., Gyger, G., Hachulla, E., Hesselstrand, R., Iagnocco, A., Kayser, C., Melsens, K., Muller-Ladner, U., Paolino, S., Pizzorni, C., Radic, M., Riccieri, V., Snow, M., Stevens, W.B.C., Sulli, A., Laar, J.M. van, Vonk, M.C., Vanhaecke, A., Cutolo, M., Smith, V., Herrick, A.L., Ingegnoli, F., Damjanov, N., Angelis, R. De, Denton, C.P., Distler, O., Espejo, K., Foeldvari, I., Frech, T., Garro, B., Gutierrez, M., Gyger, G., Hachulla, E., Hesselstrand, R., Iagnocco, A., Kayser, C., Melsens, K., Muller-Ladner, U., Paolino, S., Pizzorni, C., Radic, M., Riccieri, V., Snow, M., Stevens, W.B.C., Sulli, A., Laar, J.M. van, Vonk, M.C., Vanhaecke, A., and Cutolo, M.
Abstract: Contains fulltext : 219902.pdf (Publisher’s version ) (Open Access), Capillaroscopy is a non-invasive and safe tool which allows the evaluation of the morphology of the microcirculation. Since its recent incorporation in the 2013 American College of Rheumatology (ACR)/European League Against Rheumatism (EULAR) classification criteria for systemic sclerosis together with its assessed role to monitor disease progression, capillaroscopy became a 'mainstream' investigation for rheumatologists. Given its increasing use by a variety of physicians internationally both in daily practice to differentiate primary from secondary Raynaud's phenomenon, as well as in research context to predict disease progression and monitor treatment effects, standardisation in capillaroscopic image acquisition and analysis seems paramount. To step forward to this need, experts in the field of capillaroscopy/microcirculation provide in this very consensus paper their view on image acquisition and analysis, different capillaroscopic techniques, normal and abnormal capillaroscopic characteristics and their meaning, scoring systems and reliability of image acquisition and interpretation.
Published: 2020

36. Protocol for a partially nested randomised controlled trial to evaluate the effectiveness of the scleroderma patient-centered intervention network COVID-19 home-isolation activities together (SPIN-CHAT) program to reduce anxiety among at-risk scleroderma patients

Author: Thombs, BD, Kwakkenbos, L, Carrier, M-E, Bourgeault, A, Tao, L, Harb, S, Gagarine, M, Rice, D, Bustamante, L, Ellis, K, Duchek, D, Wu, Y, Bhandari, PM, Neupane, D, Carboni-Jimenez, A, Henry, RS, Krishnan, A, Sun, Y, Levis, B, He, C, Turner, KA, Benedetti, A, Culos-Reed, N, El-Baalbaki, G, Hebblethwaite, S, Bartlett, SJ, Dyas, L, Patten, S, Varga, J, Fortune, C, Gietzen, A, Guillot, G, Lewis, N, Nielsen, K, Richard, M, Sauve, M, Welling, J, Baron, M, Furst, DE, Gottesman, K, Malcarne, V, Mayes, MD, Mouthon, L, Nielson, WR, Riggs, R, Wigley, F, Assassi, S, Boutron, I, Ells, C, van den Ende, C, Fligelstone, K, Frech, T, Godard, D, Harel, D, Hinchcliff, M, Hudson, M, Johnson, SR, Larche, M, Leite, C, Nguyen, C, Pope, J, Portales, A, Rannou, F, Rodriguez Reyna, TS, Schouffoer, AA, Suarez-Almazor, ME, Agard, C, Albert, A, Andre, M, Arsenault, G, Benzidia, I, Bernstein, EJ, Berthier, S, Bissonnette, L, Boire, G, Bruns, A, Carreira, P, Casadevall, M, Chaigne, B, Chung, L, Cohen, P, Correia, C, Dagenais, P, Denton, C, Domsic, R, Dubois, S, Dunne, J, Dunogue, B, Fare, R, Farge-Bancel, D, Fortin, PR, Gill, A, Gordon, J, Granel-Rey, B, Gyger, G, Hachulla, E, Hatron, P-Y, Herrick, AL, Hij, A, Hoa, S, Ikic, A, Jones, N, Fernandes, AJDB, Kafaja, S, Khalidi, N, Lambert, M, Launay, D, Liang, P, Maillard, H, Maltez, N, Manning, J, Marie, I, Martin, M, Martin, T, Masetto, A, Maurier, F, Mekinian, A, Melchor, S, Nikpour, M, Olagne, L, Poindron, V, Proudman, S, Regent, A, Riviere, S, Robinson, D, Rodriguez, E, Roux, S, Smets, P, Smith, D, Sobanski, V, Spiera, R, Steen, V, Stevens, W, Sutton, E, Terrier, B, Thorne, C, Wilcox, P, Ayala, MC, Ostbo, N, Thombs, BD, Kwakkenbos, L, Carrier, M-E, Bourgeault, A, Tao, L, Harb, S, Gagarine, M, Rice, D, Bustamante, L, Ellis, K, Duchek, D, Wu, Y, Bhandari, PM, Neupane, D, Carboni-Jimenez, A, Henry, RS, Krishnan, A, Sun, Y, Levis, B, He, C, Turner, KA, Benedetti, A, Culos-Reed, N, El-Baalbaki, G, Hebblethwaite, S, Bartlett, SJ, Dyas, L, Patten, S, Varga, J, Fortune, C, Gietzen, A, Guillot, G, Lewis, N, Nielsen, K, Richard, M, Sauve, M, Welling, J, Baron, M, Furst, DE, Gottesman, K, Malcarne, V, Mayes, MD, Mouthon, L, Nielson, WR, Riggs, R, Wigley, F, Assassi, S, Boutron, I, Ells, C, van den Ende, C, Fligelstone, K, Frech, T, Godard, D, Harel, D, Hinchcliff, M, Hudson, M, Johnson, SR, Larche, M, Leite, C, Nguyen, C, Pope, J, Portales, A, Rannou, F, Rodriguez Reyna, TS, Schouffoer, AA, Suarez-Almazor, ME, Agard, C, Albert, A, Andre, M, Arsenault, G, Benzidia, I, Bernstein, EJ, Berthier, S, Bissonnette, L, Boire, G, Bruns, A, Carreira, P, Casadevall, M, Chaigne, B, Chung, L, Cohen, P, Correia, C, Dagenais, P, Denton, C, Domsic, R, Dubois, S, Dunne, J, Dunogue, B, Fare, R, Farge-Bancel, D, Fortin, PR, Gill, A, Gordon, J, Granel-Rey, B, Gyger, G, Hachulla, E, Hatron, P-Y, Herrick, AL, Hij, A, Hoa, S, Ikic, A, Jones, N, Fernandes, AJDB, Kafaja, S, Khalidi, N, Lambert, M, Launay, D, Liang, P, Maillard, H, Maltez, N, Manning, J, Marie, I, Martin, M, Martin, T, Masetto, A, Maurier, F, Mekinian, A, Melchor, S, Nikpour, M, Olagne, L, Poindron, V, Proudman, S, Regent, A, Riviere, S, Robinson, D, Rodriguez, E, Roux, S, Smets, P, Smith, D, Sobanski, V, Spiera, R, Steen, V, Stevens, W, Sutton, E, Terrier, B, Thorne, C, Wilcox, P, Ayala, MC, and Ostbo, N
Abstract: Objective Contagious disease outbreaks and related restrictions can lead to negative psychological outcomes, particularly in vulnerable populations at risk due to pre-existing medical conditions. No randomised controlled trials (RCTs) have tested interventions to reduce mental health consequences of contagious disease outbreaks. The primary objective of the Scleroderma Patient-centered Intervention Network COVID-19 Home-isolation Activities Together (SPIN-CHAT) Trial is to evaluate the effect of a videoconference-based program on symptoms of anxiety. Secondary objectives include evaluating effects on symptoms of depression, stress, loneliness, boredom, physical activity, and social interaction.
Published: 2020

37. Riociguat in patients with early diffuse cutaneous systemic sclerosis (RISE-SSc): randomised, double-blind, placebo-controlled multicentre trial.

Author: Khanna, D, Allanore, Y, Denton, CP, Kuwana, M, Matucci-Cerinic, M, Pope, JE, Atsumi, T, Bečvář, R, Czirják, L, Hachulla, E, Ishii, T, Ishikawa, O, Johnson, SR, De Langhe, E, Stagnaro, C, Riccieri, V, Schiopu, E, Silver, RM, Smith, V, Steen, V, Stevens, W, Szücs, G, Truchetet, M-E, Wosnitza, M, Laapas, K, de Oliveira Pena, J, Yao, Z, Kramer, F, Distler, O, Khanna, D, Allanore, Y, Denton, CP, Kuwana, M, Matucci-Cerinic, M, Pope, JE, Atsumi, T, Bečvář, R, Czirják, L, Hachulla, E, Ishii, T, Ishikawa, O, Johnson, SR, De Langhe, E, Stagnaro, C, Riccieri, V, Schiopu, E, Silver, RM, Smith, V, Steen, V, Stevens, W, Szücs, G, Truchetet, M-E, Wosnitza, M, Laapas, K, de Oliveira Pena, J, Yao, Z, Kramer, F, and Distler, O
Abstract: OBJECTIVES: Riociguat is approved for pulmonary arterial hypertension and has antiproliferative, anti-inflammatory and antifibrotic effects in animal models of tissue fibrosis. We evaluated the efficacy and safety of riociguat in patients with early diffuse cutaneous systemic sclerosis (dcSSc) at high risk of skin fibrosis progression. METHODS: In this randomised, double-blind, placebo-controlled, phase IIb trial, adults with dcSSc of <18 months' duration and a modified Rodnan skin score (mRSS) 10-22 units received riociguat 0.5 mg to 2.5 mg orally three times daily (n=60) or placebo (n=61). The primary endpoint was change in mRSS from baseline to week 52. RESULTS: At week 52, change from baseline in mRSS units was -2.09±5.66 (n=57) with riociguat and -0.77±8.24 (n=52) with placebo (difference of least squares means -2.34 (95% CI -4.99 to 0.30; p=0.08)). In patients with interstitial lung disease, forced vital capacity declined by 2.7% with riociguat and 7.6% with placebo. At week 14, average Raynaud's condition score had improved ≥50% in 19 (41.3%)/46 patients with riociguat and 13 (26.0%)/50 patients with placebo. Safety assessments showed no new signals with riociguat and no treatment-related deaths. CONCLUSIONS: Riociguat did not significantly benefit mRSS versus placebo at the predefined p<0.05. Secondary and exploratory analyses showed potential efficacy signals that should be tested in further trials. Riociguat was well tolerated.
Published: 2020

38. Standardisation of nailfold capillaroscopy for the assessment of patients with Raynaud's phenomenon and systemic sclerosis

Author: Smith, V., Herrick, A.L., Ingegnoli, F., Damjanov, N., Angelis, R. De, Denton, C.P., Distler, O., Espejo, K., Foeldvari, I., Frech, T., Garro, B., Gutierrez, M., Gyger, G., Hachulla, E., Hesselstrand, R., Iagnocco, A., Kayser, C., Melsens, K., Muller-Ladner, U., Paolino, S., Pizzorni, C., Radic, M., Riccieri, V., Snow, M., Stevens, W.B.C., Sulli, A., Laar, J.M. van, Vonk, M.C., Vanhaecke, A., Cutolo, M., Smith, V., Herrick, A.L., Ingegnoli, F., Damjanov, N., Angelis, R. De, Denton, C.P., Distler, O., Espejo, K., Foeldvari, I., Frech, T., Garro, B., Gutierrez, M., Gyger, G., Hachulla, E., Hesselstrand, R., Iagnocco, A., Kayser, C., Melsens, K., Muller-Ladner, U., Paolino, S., Pizzorni, C., Radic, M., Riccieri, V., Snow, M., Stevens, W.B.C., Sulli, A., Laar, J.M. van, Vonk, M.C., Vanhaecke, A., and Cutolo, M.
Abstract: Contains fulltext : 219902.pdf (Publisher’s version ) (Open Access), Capillaroscopy is a non-invasive and safe tool which allows the evaluation of the morphology of the microcirculation. Since its recent incorporation in the 2013 American College of Rheumatology (ACR)/European League Against Rheumatism (EULAR) classification criteria for systemic sclerosis together with its assessed role to monitor disease progression, capillaroscopy became a 'mainstream' investigation for rheumatologists. Given its increasing use by a variety of physicians internationally both in daily practice to differentiate primary from secondary Raynaud's phenomenon, as well as in research context to predict disease progression and monitor treatment effects, standardisation in capillaroscopic image acquisition and analysis seems paramount. To step forward to this need, experts in the field of capillaroscopy/microcirculation provide in this very consensus paper their view on image acquisition and analysis, different capillaroscopic techniques, normal and abnormal capillaroscopic characteristics and their meaning, scoring systems and reliability of image acquisition and interpretation.
Published: 2020

39. Fast track algorithm: How to differentiate a 'scleroderma pattern' from a 'non-scleroderma pattern'

Author: Smith, V., Vanhaecke, A., Herrick, A.L., Distler, O., Guerra, M.G., Denton, C.P., Deschepper, E., Foeldvari, I., Gutierrez, M., Hachulla, E., Ingegnoli, F., Kubo, S., Muller-Ladner, U., Riccieri, V., Sulli, A., Laar, J.M. van, Vonk, M.C., Walker, U.A., Cutolo, M., Smith, V., Vanhaecke, A., Herrick, A.L., Distler, O., Guerra, M.G., Denton, C.P., Deschepper, E., Foeldvari, I., Gutierrez, M., Hachulla, E., Ingegnoli, F., Kubo, S., Muller-Ladner, U., Riccieri, V., Sulli, A., Laar, J.M. van, Vonk, M.C., Walker, U.A., and Cutolo, M.
Abstract: Contains fulltext : 215793.pdf (publisher's version ) (Open Access), OBJECTIVES: This study was designed to propose a simple "Fast Track algorithm" for capillaroscopists of any level of experience to differentiate "scleroderma patterns" from "non-scleroderma patterns" on capillaroscopy and to assess its inter-rater reliability. METHODS: Based on existing definitions to categorise capillaroscopic images as "scleroderma patterns" and taking into account the real life variability of capillaroscopic images described standardly according to the European League Against Rheumatism (EULAR) Study Group on Microcirculation in Rheumatic Diseases, a fast track decision tree, the "Fast Track algorithm" was created by the principal expert (VS) to facilitate swift categorisation of an image as "non-scleroderma pattern (category 1)" or "scleroderma pattern (category 2)". Mean inter-rater reliability between all raters (experts/attendees) of the 8th EULAR course on capillaroscopy in Rheumatic Diseases (Genoa, 2018) and, as external validation, of the 8th European Scleroderma Trials and Research group (EUSTAR) course on systemic sclerosis (SSc) (Nijmegen, 2019) versus the principal expert, as well as reliability between the rater pairs themselves was assessed by mean Cohen's and Light's kappa coefficients. RESULTS: Mean Cohen's kappa was 1/0.96 (95% CI 0.95-0.98) for the 6 experts/135 attendees of the 8th EULAR capillaroscopy course and 1/0.94 (95% CI 0.92-0.96) for the 3 experts/85 attendees of the 8th EUSTAR SSc course. Light's kappa was 1/0.92 at the 8th EULAR capillaroscopy course, and 1/0.87 at the 8th EUSTAR SSc course. CONCLUSION: For the first time, a clinical expert based fast track decision algorithm has been developed to differentiate a "non-scleroderma" from a "scleroderma pattern" on capillaroscopic images, demonstrating excellent reliability when applied by capillaroscopists with varying levels of expertise versus the principal expert and corroborated with external validation.
Published: 2019

40. Fast track algorithm: How to differentiate a 'scleroderma pattern' from a 'non-scleroderma pattern'

Author: Smith, V., Vanhaecke, A., Herrick, A.L., Distler, O., Guerra, M.G., Denton, C.P., Deschepper, E., Foeldvari, I., Gutierrez, M., Hachulla, E., Ingegnoli, F., Kubo, S., Muller-Ladner, U., Riccieri, V., Sulli, A., Laar, J.M. van, Vonk, M.C., Walker, U.A., Cutolo, M., Smith, V., Vanhaecke, A., Herrick, A.L., Distler, O., Guerra, M.G., Denton, C.P., Deschepper, E., Foeldvari, I., Gutierrez, M., Hachulla, E., Ingegnoli, F., Kubo, S., Muller-Ladner, U., Riccieri, V., Sulli, A., Laar, J.M. van, Vonk, M.C., Walker, U.A., and Cutolo, M.
Abstract: Contains fulltext : 215793.pdf (publisher's version ) (Open Access), OBJECTIVES: This study was designed to propose a simple "Fast Track algorithm" for capillaroscopists of any level of experience to differentiate "scleroderma patterns" from "non-scleroderma patterns" on capillaroscopy and to assess its inter-rater reliability. METHODS: Based on existing definitions to categorise capillaroscopic images as "scleroderma patterns" and taking into account the real life variability of capillaroscopic images described standardly according to the European League Against Rheumatism (EULAR) Study Group on Microcirculation in Rheumatic Diseases, a fast track decision tree, the "Fast Track algorithm" was created by the principal expert (VS) to facilitate swift categorisation of an image as "non-scleroderma pattern (category 1)" or "scleroderma pattern (category 2)". Mean inter-rater reliability between all raters (experts/attendees) of the 8th EULAR course on capillaroscopy in Rheumatic Diseases (Genoa, 2018) and, as external validation, of the 8th European Scleroderma Trials and Research group (EUSTAR) course on systemic sclerosis (SSc) (Nijmegen, 2019) versus the principal expert, as well as reliability between the rater pairs themselves was assessed by mean Cohen's and Light's kappa coefficients. RESULTS: Mean Cohen's kappa was 1/0.96 (95% CI 0.95-0.98) for the 6 experts/135 attendees of the 8th EULAR capillaroscopy course and 1/0.94 (95% CI 0.92-0.96) for the 3 experts/85 attendees of the 8th EUSTAR SSc course. Light's kappa was 1/0.92 at the 8th EULAR capillaroscopy course, and 1/0.87 at the 8th EUSTAR SSc course. CONCLUSION: For the first time, a clinical expert based fast track decision algorithm has been developed to differentiate a "non-scleroderma" from a "scleroderma pattern" on capillaroscopic images, demonstrating excellent reliability when applied by capillaroscopists with varying levels of expertise versus the principal expert and corroborated with external validation.
Published: 2019

41. Generation of a Core Set of Items to Develop Classification Criteria for Scleroderma Renal Crisis Using Consensus Methodology

Author: Butler, E-A, Baron, M, Fogo, AB, Frech, T, Ghossein, C, Hachulla, E, Hoa, S, Johnson, SR, Khanna, D, Mouthon, L, Nikpour, M, Proudman, S, Steen, V, Stern, E, Varga, J, Denton, C, Hudson, M, Barnado, A, Bernstein, EJ, Boin, F, Braun-Moscovici, Y, Castelino, FV, Catoggio, LJ, Matucci-Cerinic, M, Chung, L, Clements, P, Csuka, ME, De langhe, E, Distler, J, Distler, O, Farge, DC, Fischer, A, Gabrielli, A, Hasegawa, M, Hayat, S, Herrick, A, Hesselstrand, R, Hsu, V, Hughes, M, Hunzelmann, N, Hummers, L, Iannone, F, Ingegnoli, F, Jacobsen, S, Kawaguchi, Y, Koenig, M, Kuwana, M, Lenaerts, J, Martin, T, Mayes, MD, McMahan, Z, Medsger, T, Merkel, P, Narain, S, Ong, V, Pauling, JD, Pope, J, de la Puente, C, Rischmueller, M, Sofia Rodriguez-Reyna, T, Sahhar, J, Saketkoo, LA, Senecal, J-L, Shah, A, Shah, AA, Alberto Sifuentes-Giraldo, W, Silver, R, Stevens, W, Sutton, E, Thakkar, V, Valentini, G, de Vries-Bouwstra, J, Vonk, M, Walker, UA, Butler, E-A, Baron, M, Fogo, AB, Frech, T, Ghossein, C, Hachulla, E, Hoa, S, Johnson, SR, Khanna, D, Mouthon, L, Nikpour, M, Proudman, S, Steen, V, Stern, E, Varga, J, Denton, C, Hudson, M, Barnado, A, Bernstein, EJ, Boin, F, Braun-Moscovici, Y, Castelino, FV, Catoggio, LJ, Matucci-Cerinic, M, Chung, L, Clements, P, Csuka, ME, De langhe, E, Distler, J, Distler, O, Farge, DC, Fischer, A, Gabrielli, A, Hasegawa, M, Hayat, S, Herrick, A, Hesselstrand, R, Hsu, V, Hughes, M, Hunzelmann, N, Hummers, L, Iannone, F, Ingegnoli, F, Jacobsen, S, Kawaguchi, Y, Koenig, M, Kuwana, M, Lenaerts, J, Martin, T, Mayes, MD, McMahan, Z, Medsger, T, Merkel, P, Narain, S, Ong, V, Pauling, JD, Pope, J, de la Puente, C, Rischmueller, M, Sofia Rodriguez-Reyna, T, Sahhar, J, Saketkoo, LA, Senecal, J-L, Shah, A, Shah, AA, Alberto Sifuentes-Giraldo, W, Silver, R, Stevens, W, Sutton, E, Thakkar, V, Valentini, G, de Vries-Bouwstra, J, Vonk, M, and Walker, UA
Abstract: OBJECTIVE: To generate a core set of items to develop classification criteria for scleroderma renal crisis (SRC) using consensus methodology. METHODS: An international, multidisciplinary panel of experts was invited to participate in a 3-round Delphi exercise developed using a survey based on items identified by a scoping review. In round 1, participants were asked to identify omissions and clarify ambiguities regarding the items in the survey. In round 2, participants were asked to rate the validity and feasibility of the items using Likert-type scales ranging from 1 to 9 (where 1 = very invalid/unfeasible, 5 = uncertain, and 9 = very valid/feasible). In round 3, participants reviewed the results and comments from round 2 and were asked to provide final ratings. Items rated as highly valid and feasible (median scores ≥7 for each) in round 3 were selected as the provisional core set of items. A consensus meeting using a nominal group technique was conducted to further reduce the core set of items. RESULTS: Ninety-nine experts from 16 countries participated in the Delphi exercise. Of the 31 items in the survey, consensus was achieved on 13, in the categories hypertension, renal insufficiency, proteinuria, and hemolysis. Eleven experts took part in the nominal group technique discussion, where consensus was achieved in 5 domains: blood pressure, acute kidney injury, microangiopathic hemolytic anemia, target organ dysfunction, and renal histopathology. CONCLUSION: A core set of items that characterize SRC was identified using consensus methodology. This core set will be used in future data-driven phases of this project to develop classification criteria for SRC.
Published: 2019

42. Fast track algorithm: How to differentiate a 'scleroderma pattern' from a 'non-scleroderma pattern'

Author: Smith, V., Vanhaecke, A., Herrick, A.L., Distler, O., Guerra, M.G., Denton, C.P., Deschepper, E., Foeldvari, I., Gutierrez, M., Hachulla, E., Ingegnoli, F., Kubo, S., Muller-Ladner, U., Riccieri, V., Sulli, A., Laar, J.M. van, Vonk, M.C., Walker, U.A., Cutolo, M., Smith, V., Vanhaecke, A., Herrick, A.L., Distler, O., Guerra, M.G., Denton, C.P., Deschepper, E., Foeldvari, I., Gutierrez, M., Hachulla, E., Ingegnoli, F., Kubo, S., Muller-Ladner, U., Riccieri, V., Sulli, A., Laar, J.M. van, Vonk, M.C., Walker, U.A., and Cutolo, M.
Abstract: Contains fulltext : 215793.pdf (publisher's version ) (Open Access), OBJECTIVES: This study was designed to propose a simple "Fast Track algorithm" for capillaroscopists of any level of experience to differentiate "scleroderma patterns" from "non-scleroderma patterns" on capillaroscopy and to assess its inter-rater reliability. METHODS: Based on existing definitions to categorise capillaroscopic images as "scleroderma patterns" and taking into account the real life variability of capillaroscopic images described standardly according to the European League Against Rheumatism (EULAR) Study Group on Microcirculation in Rheumatic Diseases, a fast track decision tree, the "Fast Track algorithm" was created by the principal expert (VS) to facilitate swift categorisation of an image as "non-scleroderma pattern (category 1)" or "scleroderma pattern (category 2)". Mean inter-rater reliability between all raters (experts/attendees) of the 8th EULAR course on capillaroscopy in Rheumatic Diseases (Genoa, 2018) and, as external validation, of the 8th European Scleroderma Trials and Research group (EUSTAR) course on systemic sclerosis (SSc) (Nijmegen, 2019) versus the principal expert, as well as reliability between the rater pairs themselves was assessed by mean Cohen's and Light's kappa coefficients. RESULTS: Mean Cohen's kappa was 1/0.96 (95% CI 0.95-0.98) for the 6 experts/135 attendees of the 8th EULAR capillaroscopy course and 1/0.94 (95% CI 0.92-0.96) for the 3 experts/85 attendees of the 8th EUSTAR SSc course. Light's kappa was 1/0.92 at the 8th EULAR capillaroscopy course, and 1/0.87 at the 8th EUSTAR SSc course. CONCLUSION: For the first time, a clinical expert based fast track decision algorithm has been developed to differentiate a "non-scleroderma" from a "scleroderma pattern" on capillaroscopic images, demonstrating excellent reliability when applied by capillaroscopists with varying levels of expertise versus the principal expert and corroborated with external validation.
Published: 2019

43. Fast track algorithm: How to differentiate a 'scleroderma pattern' from a 'non-scleroderma pattern'

Author: Smith, V., Vanhaecke, A., Herrick, A.L., Distler, O., Guerra, M.G., Denton, C.P., Deschepper, E., Foeldvari, I., Gutierrez, M., Hachulla, E., Ingegnoli, F., Kubo, S., Muller-Ladner, U., Riccieri, V., Sulli, A., Laar, J.M. van, Vonk, M.C., Walker, U.A., Cutolo, M., Smith, V., Vanhaecke, A., Herrick, A.L., Distler, O., Guerra, M.G., Denton, C.P., Deschepper, E., Foeldvari, I., Gutierrez, M., Hachulla, E., Ingegnoli, F., Kubo, S., Muller-Ladner, U., Riccieri, V., Sulli, A., Laar, J.M. van, Vonk, M.C., Walker, U.A., and Cutolo, M.
Abstract: Contains fulltext : 215793.pdf (publisher's version ) (Open Access), OBJECTIVES: This study was designed to propose a simple "Fast Track algorithm" for capillaroscopists of any level of experience to differentiate "scleroderma patterns" from "non-scleroderma patterns" on capillaroscopy and to assess its inter-rater reliability. METHODS: Based on existing definitions to categorise capillaroscopic images as "scleroderma patterns" and taking into account the real life variability of capillaroscopic images described standardly according to the European League Against Rheumatism (EULAR) Study Group on Microcirculation in Rheumatic Diseases, a fast track decision tree, the "Fast Track algorithm" was created by the principal expert (VS) to facilitate swift categorisation of an image as "non-scleroderma pattern (category 1)" or "scleroderma pattern (category 2)". Mean inter-rater reliability between all raters (experts/attendees) of the 8th EULAR course on capillaroscopy in Rheumatic Diseases (Genoa, 2018) and, as external validation, of the 8th European Scleroderma Trials and Research group (EUSTAR) course on systemic sclerosis (SSc) (Nijmegen, 2019) versus the principal expert, as well as reliability between the rater pairs themselves was assessed by mean Cohen's and Light's kappa coefficients. RESULTS: Mean Cohen's kappa was 1/0.96 (95% CI 0.95-0.98) for the 6 experts/135 attendees of the 8th EULAR capillaroscopy course and 1/0.94 (95% CI 0.92-0.96) for the 3 experts/85 attendees of the 8th EUSTAR SSc course. Light's kappa was 1/0.92 at the 8th EULAR capillaroscopy course, and 1/0.87 at the 8th EUSTAR SSc course. CONCLUSION: For the first time, a clinical expert based fast track decision algorithm has been developed to differentiate a "non-scleroderma" from a "scleroderma pattern" on capillaroscopic images, demonstrating excellent reliability when applied by capillaroscopists with varying levels of expertise versus the principal expert and corroborated with external validation.
Published: 2019

44. Antiphospholipid syndrome: State of the art on clinical practice guidelines

Author: Limper, M. Scirè, C.A. Talarico, R. Amoura, Z. Avcin, T. Basile, M. Burmester, G. Carli, L. Cervera, R. Costedoat-Chalumeau, N. Doria, A. Dörner, T. Fonseca, J.E. Galetti, I. Hachulla, E. Launay, D. Lourenco, F. Macieira, C. Meroni, P. Montecucco, C.M. Moraes-Fontes, M.F. Mouthon, L. Nalli, C. Ramoni, V. Tektonidou, M. Van Laar, J.M. Bombardieri, S. Schneider, M. Smith, V. Vieira, A. Cutolo, M. Mosca, M. Tincani, A. and Limper, M. Scirè, C.A. Talarico, R. Amoura, Z. Avcin, T. Basile, M. Burmester, G. Carli, L. Cervera, R. Costedoat-Chalumeau, N. Doria, A. Dörner, T. Fonseca, J.E. Galetti, I. Hachulla, E. Launay, D. Lourenco, F. Macieira, C. Meroni, P. Montecucco, C.M. Moraes-Fontes, M.F. Mouthon, L. Nalli, C. Ramoni, V. Tektonidou, M. Van Laar, J.M. Bombardieri, S. Schneider, M. Smith, V. Vieira, A. Cutolo, M. Mosca, M. Tincani, A.
Abstract: Antiphospholipid syndrome (APS) is a rare disease characterised by venous and/or arterial thrombosis, pregnancy complications and the presence of specific autoantibodies called antiphospholipid antibodies. This review aims to identify existing clinical practice guidelines (CPG) as part of the ERN ReCONNET project, aimed at evaluating existing CPGs or recommendations in rare and complex diseases. Seventeen papers providing important data were identified; however, the literature search highlighted the scarceness of reliable clinical data to develop CPGs. With no formal clinical guidelines in place, diagnosis and treatment of APS is largely based on consensus and expert opinion. Patients' unmet need refers to the understanding of the disease and its clinical picture and implications, the need of education for patients, family members and healthcare providers, as well as to the development of monitoring pathways involving multiple healthcare providers. © 2018 Author(s) (or their employer(s)).
Published: 2018

45. Patterns and predictors of skin score change in early diffuse systemic sclerosis from the European Scleroderma Observational Study

Author: Herrick, A.L., Peytrignet, S., Lunt, M., Pan, X., Hesselstrand, R., Mouthon, L., Silman, A.J., Dinsdale, G., Brown, E., Czirjak, L., Distler, J.H., Distler, O., Fligelstone, K., Gregory, W.J., Ochiel, R., Vonk, M.C., Ancuta, C., Ong, V.H., Farge, D., Hudson, M., Matucci-Cerinic, M., Balbir-Gurman, A., Midtvedt, O., Jobanputra, P., Jordan, A.C., Stevens, W.B.C., Moinzadeh, P., Hall, F.C., Agard, C., Anderson, M.E., Diot, E., Madhok, R., Akil, M., Buch, M.H., Chung, L., Damjanov, N.S., Gunawardena, H., Lanyon, P., Ahmad, Y., Chakravarty, K., Jacobsen, S., MacGregor, A.J., McHugh, N., Muller-Ladner, U., Riemekasten, G., Becker, M., Roddy, J., Carreira, P.E., Fauchais, A.L., Hachulla, E., Hamilton, J., Inanc, M., McLaren, J.S., Laar, J.M. van, Pathare, S., Proudman, S.M., Rudin, A., Sahhar, J., Coppere, B., Serratrice, C., Sheeran, T., Veale, D.J., Grange, C., Trad, G.S., Denton, C.P., Herrick, A.L., Peytrignet, S., Lunt, M., Pan, X., Hesselstrand, R., Mouthon, L., Silman, A.J., Dinsdale, G., Brown, E., Czirjak, L., Distler, J.H., Distler, O., Fligelstone, K., Gregory, W.J., Ochiel, R., Vonk, M.C., Ancuta, C., Ong, V.H., Farge, D., Hudson, M., Matucci-Cerinic, M., Balbir-Gurman, A., Midtvedt, O., Jobanputra, P., Jordan, A.C., Stevens, W.B.C., Moinzadeh, P., Hall, F.C., Agard, C., Anderson, M.E., Diot, E., Madhok, R., Akil, M., Buch, M.H., Chung, L., Damjanov, N.S., Gunawardena, H., Lanyon, P., Ahmad, Y., Chakravarty, K., Jacobsen, S., MacGregor, A.J., McHugh, N., Muller-Ladner, U., Riemekasten, G., Becker, M., Roddy, J., Carreira, P.E., Fauchais, A.L., Hachulla, E., Hamilton, J., Inanc, M., McLaren, J.S., Laar, J.M. van, Pathare, S., Proudman, S.M., Rudin, A., Sahhar, J., Coppere, B., Serratrice, C., Sheeran, T., Veale, D.J., Grange, C., Trad, G.S., and Denton, C.P.
Abstract: Contains fulltext : 191335.pdf (publisher's version ) (Open Access), OBJECTIVES: Our aim was to use the opportunity provided by the European Scleroderma Observational Study to (1) identify and describe those patients with early diffuse cutaneous systemic sclerosis (dcSSc) with progressive skin thickness, and (2) derive prediction models for progression over 12 months, to inform future randomised controlled trials (RCTs). METHODS: The modified Rodnan skin score (mRSS) was recorded every 3 months in 326 patients. 'Progressors' were defined as those experiencing a 5-unit and 25% increase in mRSS score over 12 months (+/-3 months). Logistic models were fitted to predict progression and, using receiver operating characteristic (ROC) curves, were compared on the basis of the area under curve (AUC), accuracy and positive predictive value (PPV). RESULTS: 66 patients (22.5%) progressed, 227 (77.5%) did not (33 could not have their status assessed due to insufficient data). Progressors had shorter disease duration (median 8.1 vs 12.6 months, P=0.001) and lower mRSS (median 19 vs 21 units, P=0.030) than non-progressors. Skin score was highest, and peaked earliest, in the anti-RNA polymerase III (Pol3+) subgroup (n=50). A first predictive model (including mRSS, duration of skin thickening and their interaction) had an accuracy of 60.9%, AUC of 0.666 and PPV of 33.8%. By adding a variable for Pol3 positivity, the model reached an accuracy of 71%, AUC of 0.711 and PPV of 41%. CONCLUSIONS: Two prediction models for progressive skin thickening were derived, for use both in clinical practice and for cohort enrichment in RCTs. These models will inform recruitment into the many clinical trials of dcSSc projected for the coming years. TRIAL REGISTRATION NUMBER: NCT02339441.
Published: 2018

46. What have multicentre registries across the world taught us about the disease features of systemic sclerosis?.

Author: Iannone F., Schett G., Distler J.H., Meroni P., Zeni S., Mouthon L., De Keyser F., Smith V., Cantatore F.P., Corrado A., Ullman S., Iversen L., Pozzi M.R., Eyerich K., Hein R., Knott E., Szechinski J., Wiland P., Szmyrka-Kaczmarek M., Sokolik R., Morgiel E., Krummel-Lorenz B., Saar P., Aringer M., Gunther C., Anic B., Baresic M., Mayer M., Radominski S.C., de Souza Muller C., Azevedo V.F., Agachi S., Groppa L., Chiaburu L., Russu E., Zenone T., Stebbings S., Highton J., Stamp L., Chapman P., O'Donnell J., Solanki K., Doube A., Veale D., O'Rourke M., Loyo E., Rosato E., Pisarri S., Tanaseanu C.-M., Popescu M., Dumitrascu A., Tiglea I., Chirieac R., Ancuta C., Furst D.E., Kafaja S., Garcia de la Pena Lefebvre P., Rubio S.R., Exposito M.V., Sibilia J., Chatelus E., Gottenberg J.E., Chifflot H., Litinsky I., Venalis A., Butrimiene I., Venalis P., Rugiene R., Karpec D., Kerzberg E., Montoya F., Cosentino V., Low A.H.L., Teng G., Chan G., Lim A.Y.N., Ng S.C., Kowal-Bielecka O., Proudman S.M., Huq M., Stevens W., Wilson M.E., Sahhar J., Baron M., Hudson M., Allanore Y., Distler O., Bielecka O.K., Matucci-Cerinic M., H.L. Low A., Teng G.G., Law W.G., Santosa A., Nikpour M., Hill C., Lester S., Nash P., Ngian G.-S., Proudman S., Rischmueller M., Roddy J., Strickland G., Thakkar V., Walker J., Zochling J., Pope J., Markland J., Robinson D., Jones N., Khalidi N., Docherty P., Kaminska E., Masetto A., Sutton E., Mathieu J.-P., Ligier S., Grodzicky T., LeClercq S., Thorne C., Gyger G., Smith D., Fortin P.R., Larche M., Abu-Hakima M., Rodriguez-Reyna T.S., Cabral A.R., Fritzler M., Avouac J., Walker U.A., Guiducci S., Riemekasten G., Air P., Hachulla E., Valentini G., Carreira P.E., Cozzi F., Gurman A.B., Braun-Moscovici Y., Damjanov N., Ananieva L.P., Scorza R., Jimenez S., Busquets J., Li M., Muller-Ladner U., Maurer B., Tyndall A., Lapadula G., Becvar R., Sierakowsky S., Cutolo M., Sulli A., Cuomo G., Vettori S., Rednic S., Nicoara I., Vlachoyiannopoulos P., Montecucco C., Caporali R., Novak S., Czirjak L., Varju C., Chizzolini C., Kucharz E.J., Kotulska A., Kopec-Medrek M., Widuchowska M., Rozman B., Mallia C., Coleiro B., Gabrielli A., Farge D., Hij A., Hesselstrand R., Scheja A., Wollheim F., Martinovic D., Govoni M., Lo Monaco A., Hunzelmann N., Pellerito R., Bambara L.M., Caramaschi P., Black C., Denton C., Henes J., Santamaria V.O., Heitmann S., Krasowska D., Seidel M., Oleszowsky M., Burkhardt H., Himsel A., Salvador M.J., Stamenkovic B., Stankovic A., Tikly M., Starovoytova M.N., Engelhart M., Strauss G., Nielsen H., Damgaard K., Szucs G., Mendoza A.Z., de la Puente Buijdos C., Giraldo W.A.S., Midtvedt O., Garen T., Launay D., Valesini G., Riccieri V., Ionescu R.M., Opris D., Groseanu L., Wigley F.M., Mihai C.M., Cornateanu R.S., Ionitescu R., Gherghe A.M., Gorga M., Dobrota R., Bojinca M., Iannone F., Schett G., Distler J.H., Meroni P., Zeni S., Mouthon L., De Keyser F., Smith V., Cantatore F.P., Corrado A., Ullman S., Iversen L., Pozzi M.R., Eyerich K., Hein R., Knott E., Szechinski J., Wiland P., Szmyrka-Kaczmarek M., Sokolik R., Morgiel E., Krummel-Lorenz B., Saar P., Aringer M., Gunther C., Anic B., Baresic M., Mayer M., Radominski S.C., de Souza Muller C., Azevedo V.F., Agachi S., Groppa L., Chiaburu L., Russu E., Zenone T., Stebbings S., Highton J., Stamp L., Chapman P., O'Donnell J., Solanki K., Doube A., Veale D., O'Rourke M., Loyo E., Rosato E., Pisarri S., Tanaseanu C.-M., Popescu M., Dumitrascu A., Tiglea I., Chirieac R., Ancuta C., Furst D.E., Kafaja S., Garcia de la Pena Lefebvre P., Rubio S.R., Exposito M.V., Sibilia J., Chatelus E., Gottenberg J.E., Chifflot H., Litinsky I., Venalis A., Butrimiene I., Venalis P., Rugiene R., Karpec D., Kerzberg E., Montoya F., Cosentino V., Low A.H.L., Teng G., Chan G., Lim A.Y.N., Ng S.C., Kowal-Bielecka O., Proudman S.M., Huq M., Stevens W., Wilson M.E., Sahhar J., Baron M., Hudson M., Allanore Y., Distler O., Bielecka O.K., Matucci-Cerinic M., H.L. Low A., Teng G.G., Law W.G., Santosa A., Nikpour M., Hill C., Lester S., Nash P., Ngian G.-S., Proudman S., Rischmueller M., Roddy J., Strickland G., Thakkar V., Walker J., Zochling J., Pope J., Markland J., Robinson D., Jones N., Khalidi N., Docherty P., Kaminska E., Masetto A., Sutton E., Mathieu J.-P., Ligier S., Grodzicky T., LeClercq S., Thorne C., Gyger G., Smith D., Fortin P.R., Larche M., Abu-Hakima M., Rodriguez-Reyna T.S., Cabral A.R., Fritzler M., Avouac J., Walker U.A., Guiducci S., Riemekasten G., Air P., Hachulla E., Valentini G., Carreira P.E., Cozzi F., Gurman A.B., Braun-Moscovici Y., Damjanov N., Ananieva L.P., Scorza R., Jimenez S., Busquets J., Li M., Muller-Ladner U., Maurer B., Tyndall A., Lapadula G., Becvar R., Sierakowsky S., Cutolo M., Sulli A., Cuomo G., Vettori S., Rednic S., Nicoara I., Vlachoyiannopoulos P., Montecucco C., Caporali R., Novak S., Czirjak L., Varju C., Chizzolini C., Kucharz E.J., Kotulska A., Kopec-Medrek M., Widuchowska M., Rozman B., Mallia C., Coleiro B., Gabrielli A., Farge D., Hij A., Hesselstrand R., Scheja A., Wollheim F., Martinovic D., Govoni M., Lo Monaco A., Hunzelmann N., Pellerito R., Bambara L.M., Caramaschi P., Black C., Denton C., Henes J., Santamaria V.O., Heitmann S., Krasowska D., Seidel M., Oleszowsky M., Burkhardt H., Himsel A., Salvador M.J., Stamenkovic B., Stankovic A., Tikly M., Starovoytova M.N., Engelhart M., Strauss G., Nielsen H., Damgaard K., Szucs G., Mendoza A.Z., de la Puente Buijdos C., Giraldo W.A.S., Midtvedt O., Garen T., Launay D., Valesini G., Riccieri V., Ionescu R.M., Opris D., Groseanu L., Wigley F.M., Mihai C.M., Cornateanu R.S., Ionitescu R., Gherghe A.M., Gorga M., Dobrota R., and Bojinca M.
Abstract: Introduction: The aim of this study is to compare the clinical features, mortality and causes of death of systemic sclerosis (SSc) patients in four large multicentre registries. Method(s): Patients seen at least once in the Australian Scleroderma Cohort Study (ASCS) (n = 1714), the Canadian Scleroderma Research Group (CSRG) (n = 1628), the European League Against Rheumatism Scleroderma Trials and Research (EUSTAR) Network (n = 13,996) and the Systemic Sclerosis Cohort in Singapore (SCORE) (n = 500) before August 2016 were included. Clinical manifestations and survival in cohorts and disease subtypes were compared. Result(s): Among 17,838 SSc patients, most were female (86.1%), Caucasian (84.6%) and had the limited cutaneous subtype (lcSSc) (65.0%). The anti-centromere autoantibody was the most prevalent (37.6%). More patients in SCORE had the diffuse subtype (dcSSc) (49.3%) and Scl-70 autoantibody (38.8%) (p<0.001). Patients with dcSSc were more likely to be younger and male (p<0.001) and have shorter disease duration, more calcinosis, tendon friction rubs and synovitis (all p<0.001). Interstitial lung disease (ILD) occurred more frequently in dcSSc but prevalence of pulmonary arterial hypertension (PAH) was similar in both subtypes. More deaths occurred among SCORE patients who had the shortest median survival (p<0.001). The survival of patients with early disease, males and those with dcSSc was shorter than that of patients with prevalent disease, female gender and lcSSc, respectively. SSc-related complications accounted for more than 50% of deaths, with PAH and ILD being the most common. Conclusion(s): This meta-cohort of SSc patients, the largest reported to date, provides insights into the impact of race and sex on disease manifestations and survival and confirms the early mortality in this disease.Copyright © 2017 Wichtig International
Published: 2018

47. Systemic sclerosis: State of the art on clinical practice guidelines

Author: Smith, V. (Vanessa), Scirè, C.A. (Carlo Alberto), Talarico, R. (Rosaria), Airo, P. (Paolo), Alexander, T. (Tobias), Allanore, Y. (Yannick), Bruni, C. (Cosimo), Codullo, V. (Veronica), Dalm, V.A.S.H. (Virgil), Vries-Bouwstra, J.K. (Jeska) de, Della Rossa, A. (Alessandra), Distler, O. (Oliver), Galetti, I. (Ilaria), Launay, D. (David), Lepri, G. (Gemma), Mathian, A. (Alexis), Mouthon, L. (Luc), Ruaro, B. (Barbara), Sulli, A. (Alberto), Tincani, A. (Angela), Vandecasteele, E. (Els), Vanhaecke, A. (Amber), Vanthuyne, M. (Marie), Hoogen, F.H.J. van den, Van Vollenhoven, R.F. (Ronald F.), Voskuyl, R.A. (Robert), Zanatta, E. (Elisabetta), Bombardieri, S. (Stefano), Burmester, G.R. (Gerd), Eurico, F.J. (Fonseca João), Frank, C. (Charissa), Hachulla, E. (Eric), Houssiau, F. (Frederic), Mueller-Ladner, U. (Ulf), Schneider, M. (Matthias), Van Laar, J.M. (Jacob M), Vieira, A. (Ana), Cutolo, M. (Maurizio), Mosca, M. (Marta), Matucci-Cerinic, M. (Marco), Smith, V. (Vanessa), Scirè, C.A. (Carlo Alberto), Talarico, R. (Rosaria), Airo, P. (Paolo), Alexander, T. (Tobias), Allanore, Y. (Yannick), Bruni, C. (Cosimo), Codullo, V. (Veronica), Dalm, V.A.S.H. (Virgil), Vries-Bouwstra, J.K. (Jeska) de, Della Rossa, A. (Alessandra), Distler, O. (Oliver), Galetti, I. (Ilaria), Launay, D. (David), Lepri, G. (Gemma), Mathian, A. (Alexis), Mouthon, L. (Luc), Ruaro, B. (Barbara), Sulli, A. (Alberto), Tincani, A. (Angela), Vandecasteele, E. (Els), Vanhaecke, A. (Amber), Vanthuyne, M. (Marie), Hoogen, F.H.J. van den, Van Vollenhoven, R.F. (Ronald F.), Voskuyl, R.A. (Robert), Zanatta, E. (Elisabetta), Bombardieri, S. (Stefano), Burmester, G.R. (Gerd), Eurico, F.J. (Fonseca João), Frank, C. (Charissa), Hachulla, E. (Eric), Houssiau, F. (Frederic), Mueller-Ladner, U. (Ulf), Schneider, M. (Matthias), Van Laar, J.M. (Jacob M), Vieira, A. (Ana), Cutolo, M. (Maurizio), Mosca, M. (Marta), and Matucci-Cerinic, M. (Marco)
Abstract: Systemic sclerosis (SSc) is an orphan disease characterised by autoimmunity, fibrosis of the skin and internal organs, and vasculopathy. SSc may be associated with high morbidity and mortality. In this narrative review we summarise the results of a systematic literature research, which was performed as part of the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases project, aimed at evaluating existing clinical practice guidelines or recommendations. Only in the domains 'Vascular & Ulcers' (ie, non-pharmacological approach to digital ulcer), 'PAH' (ie, screening and treatment), 'Treatment' and 'Juveniles' (ie, evaluation of juveniles with Raynaud's phenomenon) evidence-based and consensus-based guidelines could be included. Hence there is a preponderance of unmet needs in SSc referring to the diagnosis and (non-)pharmacological treatment of several SSc-specific complications. Patients with SSc experience significant uncertainty concerning SSc-related taxonomy, management (both pharmacological and nonpharmacological) and education. Day-to-day impact of the disease (loss of self-esteem, fatigue, sexual dysfunction, and occupational, nutritional and relational problems) is underestimated and needs evaluation.
Published: 2018
Full Text: View/download PDF

48. Sjögren's syndrome: State of the art on clinical practice guidelines

Author: Romão, V.C. (Vasco C.), Talarico, R. (Rosaria), Scirè, C.A. (Carlo Alberto), Vieira, A. (Ana), Alexander, T. (Tobias), Baldini, C. (Chiara), Gottenberg, J.-E. (Jacques-Eric), Gruner, H. (Heidi), Hachulla, E. (Eric), Mouthon, L. (Luc), Orlandi, M. (Martina), Pamfil, C. (Cristina), Pineton De Chambrun, M. (Marc), Taglietti, M. (Marco), Toplak, N. (Natasa), Daele, P.L.A. (Paul) van, Van Laar, J.M. (Jacob M), Bombardieri, S. (Stefano), Schneider, M. (Matthias), Smith, V. (Vanessa), Cutolo, M. (Maurizio), Mosca, M. (Marta), Mariette, X. (Xavier), Romão, V.C. (Vasco C.), Talarico, R. (Rosaria), Scirè, C.A. (Carlo Alberto), Vieira, A. (Ana), Alexander, T. (Tobias), Baldini, C. (Chiara), Gottenberg, J.-E. (Jacques-Eric), Gruner, H. (Heidi), Hachulla, E. (Eric), Mouthon, L. (Luc), Orlandi, M. (Martina), Pamfil, C. (Cristina), Pineton De Chambrun, M. (Marc), Taglietti, M. (Marco), Toplak, N. (Natasa), Daele, P.L.A. (Paul) van, Van Laar, J.M. (Jacob M), Bombardieri, S. (Stefano), Schneider, M. (Matthias), Smith, V. (Vanessa), Cutolo, M. (Maurizio), Mosca, M. (Marta), and Mariette, X. (Xavier)
Abstract: Sjögren's syndrome (SS) is a complex autoimmune rheumatic disease that specifically targets salivary and lachrymal glands. As such, patients typically had ocular and oral dryness and salivary gland swelling. Moreover, skin, nasal and vaginal dryness are frequently present. In addition to dryness, musculoskeletal pain and fatigue are the hallmarks of this disease and constitute the classic symptom triad presented by the vast majority of patients. Up to 30% to 50 % of patients with SS may present systemic disease; moreover, there is an increased risk for the development of non-Hodgkin's lymphoma that occurs in a minority of patients. The present work was developed in the framework of the European Reference Network (ERN) dedicated to Rare and Complex Connective Tissue and Musculoskeletal Diseases (ReCONNET). In line with its goals of aiming to improve early diagnosis, treatment and care of rare connective and musculoskeletal diseases, ERN-ReCONNET set to review the current state of clinical practice guidelines (CPGs) in the rare and complex connective tissue diseases of interest of the network. Therefore, the present work was aimed at providing a state of the art of CPGs for SS.
Published: 2018
Full Text: View/download PDF

49. Patterns and predictors of skin score change in early diffuse systemic sclerosis from the European Scleroderma Observational Study.

Author: Midtvedt O., Veale D.J., Grange C., Trad G.-S., Denton C.P., Herrick A.L., Peytrignet S., Lunt M., Pan X., Hesselstrand R., Mouthon L., Silman A.J., DInsdale G., Brown E., Czirjak L., DIstler J.H.W., DIstler O., Fligelstone K., Gregory W.J., Ochiel R., Vonk M.C., Ancu C., Ong V.H., Farge D., Hudson M., Matucci-Cerinic M., Balbir-Gurman A., Jobanputra P., Jordan A.C., Stevens W., Moinzadeh P., Hall F.C., Agard C., Anderson M.E., DIot E., Madhok R., Akil M., Buch M.H., Chung L., Damjanov N.S., Gunawardena H., Lanyon P., Ahmad Y., Chakravarty K., Jacobsen S., MacGregor A.J., McHugh N., Muller-Ladner U., Riemekasten G., Becker M., Roddy J., Carreira P.E., Fauchais A.L., Hachulla E., Hamilton J., Inanc M., McLaren J.S., Van Laar J.M., Pathare S., Proudman S.M., Rudin A., Sahhar J., Coppere B., Serratrice C., Sheeran T., Midtvedt O., Veale D.J., Grange C., Trad G.-S., Denton C.P., Herrick A.L., Peytrignet S., Lunt M., Pan X., Hesselstrand R., Mouthon L., Silman A.J., DInsdale G., Brown E., Czirjak L., DIstler J.H.W., DIstler O., Fligelstone K., Gregory W.J., Ochiel R., Vonk M.C., Ancu C., Ong V.H., Farge D., Hudson M., Matucci-Cerinic M., Balbir-Gurman A., Jobanputra P., Jordan A.C., Stevens W., Moinzadeh P., Hall F.C., Agard C., Anderson M.E., DIot E., Madhok R., Akil M., Buch M.H., Chung L., Damjanov N.S., Gunawardena H., Lanyon P., Ahmad Y., Chakravarty K., Jacobsen S., MacGregor A.J., McHugh N., Muller-Ladner U., Riemekasten G., Becker M., Roddy J., Carreira P.E., Fauchais A.L., Hachulla E., Hamilton J., Inanc M., McLaren J.S., Van Laar J.M., Pathare S., Proudman S.M., Rudin A., Sahhar J., Coppere B., Serratrice C., and Sheeran T.
Abstract: Objectives Our aim was to use the opportunity provided by the European Scleroderma Observational Study to (1) identify and describe those patients with early diffuse cutaneous systemic sclerosis (dcSSc) with progressive skin thickness, and (2) derive prediction models for progression over 12 months, to inform future randomised controlled trials (RCTs). Methods The modified Rodnan skin score (mRSS) was recorded every 3 months in 326 patients. 'Progressors' were defined as those experiencing a 5-unit and 25% increase in mRSS score over 12 months (+/-3 months). Logistic models were fitted to predict progression and, using receiver operating characteristic (ROC) curves, were compared on the basis of the area under curve (AUC), accuracy and positive predictive value (PPV). Results 66 patients (22.5%) progressed, 227 (77.5%) did not (33 could not have their status assessed due to insufficient data). Progressors had shorter disease duration (median 8.1 vs 12.6 months, P=0.001) and lower mRSS (median 19 vs 21 units, P=0.030) than non-progressors. Skin score was highest, and peaked earliest, in the anti-RNA polymerase III (Pol3+) subgroup (n=50). A first predictive model (including mRSS, duration of skin thickening and their interaction) had an accuracy of 60.9%, AUC of 0.666 and PPV of 33.8%. By adding a variable for Pol3 positivity, the model reached an accuracy of 71%, AUC of 0.711 and PPV of 41%. Conclusions Two prediction models for progressive skin thickening were derived, for use both in clinical practice and for cohort enrichment in RCTs. These models will inform recruitment into the many clinical trials of dcSSc projected for the coming years. Trial registration number NCT02339441.Copyright © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.
Published: 2018

50. In silico validation of the Autoinflammatory Disease Damage Index

Author: Haar, N.M.R. van der, Delft, A.L.J. van, Annink, K.V., Stel, H. van, Al-Mayouf, S.M., Amaryan, G., Anton, J., Barron, K.S., Benseler, S., Brogan, P.A., Cantarini, L., Cattalini, M., Cochino, A.V., Benedetti, F. De, Dedeoglu, F., Jesus, A.A. De, Demirkaya, E., Dolezalova, P., Durrant, K.L., Fabio, G., Gallizzi, R., Goldbach-Mansky, R., Hachulla, E., Hentgen, V., Herlin, T., Hofer, M., Hoffman, H.M., Insalaco, A., Jansson, A.F., Kallinich, T., Kone-Paut, I., Kozlova, A., Kuemmerle-Deschner, J.B., Lachmann, H.J., Laxer, R.M., Martini, A., Nielsen, S., Nikishina, I., Ombrello, A.K., Ozen, S., Papadopoulou-Alataki, E., Quartier, P., Rigante, D., Russo, R., Simon, A., Trachana, M., Uziel, Y., Ravelli, A., Schulert, G., Gattorno, M., Frenkel, J., Haar, N.M.R. van der, Delft, A.L.J. van, Annink, K.V., Stel, H. van, Al-Mayouf, S.M., Amaryan, G., Anton, J., Barron, K.S., Benseler, S., Brogan, P.A., Cantarini, L., Cattalini, M., Cochino, A.V., Benedetti, F. De, Dedeoglu, F., Jesus, A.A. De, Demirkaya, E., Dolezalova, P., Durrant, K.L., Fabio, G., Gallizzi, R., Goldbach-Mansky, R., Hachulla, E., Hentgen, V., Herlin, T., Hofer, M., Hoffman, H.M., Insalaco, A., Jansson, A.F., Kallinich, T., Kone-Paut, I., Kozlova, A., Kuemmerle-Deschner, J.B., Lachmann, H.J., Laxer, R.M., Martini, A., Nielsen, S., Nikishina, I., Ombrello, A.K., Ozen, S., Papadopoulou-Alataki, E., Quartier, P., Rigante, D., Russo, R., Simon, A., Trachana, M., Uziel, Y., Ravelli, A., Schulert, G., Gattorno, M., and Frenkel, J.
Abstract: Item does not contain fulltext, INTRODUCTION: Autoinflammatory diseases can cause irreversible tissue damage due to systemic inflammation. Recently, the Autoinflammatory Disease Damage Index (ADDI) was developed. The ADDI is the first instrument to quantify damage in familial Mediterranean fever, cryopyrin-associated periodic syndromes, mevalonate kinase deficiency and tumour necrosis factor receptor-associated periodic syndrome. The aim of this study was to validate this tool for its intended use in a clinical/research setting. METHODS: The ADDI was scored on paper clinical cases by at least three physicians per case, independently of each other. Face and content validity were assessed by requesting comments on the ADDI. Reliability was tested by calculating the intraclass correlation coefficient (ICC) using an 'observer-nested-within-subject' design. Construct validity was determined by correlating the ADDI score to the Physician Global Assessment (PGA) of damage and disease activity. Redundancy of individual items was determined with Cronbach's alpha. RESULTS: The ADDI was validated on a total of 110 paper clinical cases by 37 experts in autoinflammatory diseases. This yielded an ICC of 0.84 (95% CI 0.78 to 0.89). The ADDI score correlated strongly with PGA-damage (r=0.92, 95% CI 0.88 to 0.95) and was not strongly influenced by disease activity (r=0.395, 95% CI 0.21 to 0.55). After comments from disease experts, some item definitions were refined. The interitem correlation in all different categories was lower than 0.7, indicating that there was no redundancy between individual damage items. CONCLUSION: The ADDI is a reliable and valid instrument to quantify damage in individual patients and can be used to compare disease outcomes in clinical studies.
Published: 2018

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