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3. Autoantibodies against a subunit of mitochondrial respiratory chain complex I in inclusion body myositis

Author

Notarnicola, Antonella, Hellstrom, Ceke, Horuluoglu, Begum, Pin, Elisa, Preger, Charlotta, Bonomi, Francesco, De Paepe, Boel, De Bleecker, Jan L., Van der Kooi, Anneke J., De Visser, Marianne, Sacconi, Sabrina, Machado, Pedro, Badrising, Umesh A., Rietveld, Anke, Pruijn, Ger, Rothwell, Simon, Lilleker, James B., Chinoy, Hector, Benveniste, Olivier, Svenungsson, Elisabet, Idborg, Helena, Jakobsson, Per-Johan, Nilsson, Peter, and Lundberg, Ingrid E.

Published
2024
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4. Discovery of new myositis genetic associations through leveraging other immune-mediated diseases

Author

Reales, Guillermo, Amos, Christopher I., Benveniste, Olivier, Chinoy, Hector, De Bleecker, Jan, De Paepe, Boel, Doria, Andrea, Gregersen, Peter K., Lamb, Janine A., Limaye, Vidya, Lundberg, Ingrid E., Machado, Pedro M., Maurer, Britta, Miller, Frederick W., Molberg, Øyvind, Pachman, Lauren M., Padyukov, Leonid, Radstake, Timothy R., Reed, Ann M., Rider, Lisa G., Rothwell, Simon, Selva-O'Callaghan, Albert, Vencovský, Jiri, Wedderburn, Lucy R., and Wallace, Chris

Published
2024
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5. Subcutaneous efgartigimod PH20 in generalized myasthenia gravis: A phase 3 randomized noninferiority study (ADAPT-SC) and interim analyses of a long-term open-label extension study (ADAPT-SC+)

Author

Howard, James F., Jr., Vu, Tuan, Li, George, Korobko, Denis, Smilowski, Marek, Liu, Li, Gistelinck, Fien, Steeland, Sophie, Noukens, Jan, Van Hoorick, Benjamin, Podhorna, Jana, Borgions, Filip, Li, Yuebing, Utsugisawa, Kimiaki, Wiendl, Heinz, De Bleecker, Jan L., and Mantegazza, Renato

Published
2024
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6. Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients

Author

Smeets, Nathalie, Gheldof, Alexander, Dequeker, Bart, Poleur, Margaux, Maldonado Slootjes, Sofia, Van Parijs, Vinciane, Deconinck, Nicolas, Dontaine, Pauline, Alonso-Jimenez, Alicia, De Bleecker, Jan, De Ridder, Willem, Herdewyn, Sarah, Paquay, Stéphanie, Vanlander, Arnaud, De Waele, Liesbeth, Peirens, Geertrui, Beysen, Diane, Claeys, Kristl G., Dubuisson, Nicolas, Hansen, Isabelle, Remiche, Gauthier, Seneca, Sara, Bissay, Véronique, and Régal, Luc

Published
2024
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7. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.

Author

Schiava, Marianela, Ikenaga, Chiseko, Villar-Quiles, Rocío, Caballero-Ávila, Marta, Topf, Ana, Nishino, Ichizo, Kimonis, Virginia, Udd, Bjarne, Schoser, Benedikt, Zanoteli, Edmar, Souza, Paulo, Tasca, Giorgio, Lloyd, Thomas, Lopez-de Munain, Adolfo, Paradas, Carmen, Pegoraro, Elena, Nadaj-Pakleza, Aleksandra, De Bleecker, Jan, Badrising, Umesh, Alonso-Jiménez, Alicia, Kostera-Pruszczyk, Anna, Miralles, Francesc, Shin, Jin-Hong, Bevilacqua, Jorge, Olivé, Montse, Vorgerd, Matthias, Kley, Rudi, Brady, Stefen, Williams, Timothy, Domínguez-González, Cristina, Papadimas, George, Warman-Chardon, Jodi, Claeys, Kristl, de Visser, Marianne, Muelas, Nuria, LaForet, Pascal, Malfatti, Edoardo, Alfano, Lindsay, Nair, Sruthi, Manousakis, Georgios, Kushlaf, Hani, Harms, Matthew, Nance, Christopher, Ramos-Fransi, Alba, Rodolico, Carmelo, Hewamadduma, Channa, Cetin, Hakan, García-García, Jorge, Pál, Endre, Farrugia, Maria, Lamont, Phillipa, Quinn, Colin, Nedkova-Hristova, Velina, Peric, Stojan, Luo, Sushan, Oldfors, Anders, Taylor, Kate, Ralston, Stuart, Stojkovic, Tanya, Weihl, Conrad, and Diaz-Manera, Jordi

Subjects
FRONTOTEMPORAL DEMENTIA, GENETICS, INCL BODY MYOSITIS, MUSCLE DISEASE, MYOPATHY
Abstract

BACKGROUND: Valosin-containing protein (VCP) disease, caused by mutations in the VCP gene, results in myopathy, Pagets disease of bone (PBD) and frontotemporal dementia (FTD). Natural history and genotype-phenotype correlation data are limited. This study characterises patients with mutations in VCP gene and investigates genotype-phenotype correlations. METHODS: Descriptive retrospective international study collecting clinical and genetic data of patients with mutations in the VCP gene. RESULTS: Two hundred and fifty-five patients (70.0% males) were included in the study. Mean age was 56.8±9.6 years and mean age of onset 45.6±9.3 years. Mean diagnostic delay was 7.7±6 years. Symmetric lower limb weakness was reported in 50% at onset progressing to generalised muscle weakness. Other common symptoms were ventilatory insufficiency 40.3%, PDB 28.2%, dysautonomia 21.4% and FTD 14.3%. Fifty-seven genetic variants were identified, 18 of these no previously reported. c.464G>A (p.Arg155His) was the most frequent variant, identified in the 28%. Full time wheelchair users accounted for 19.1% with a median time from disease onset to been wheelchair user of 8.5 years. Variant c.463C>T (p.Arg155Cys) showed an earlier onset (37.8±7.6 year) and a higher frequency of axial and upper limb weakness, scapular winging and cognitive impairment. Forced vital capacity (FVC) below 50% was as risk factor for being full-time wheelchair user, while FVC

Published
2022

8. C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD

Author

Ervilha Pereira, Pedro, Schuermans, Nika, Meylemans, Antoon, LeBlanc, Pontus, Versluys, Lauren, Copley, Katie E., Rubien, Jack D., Altheimer, Christopher, Peetermans, Myra, Debackere, Elke, Vanakker, Olivier, Janssens, Sandra, Baets, Jonathan, Verhoeven, Kristof, Lammens, Martin, Symoens, Sofie, De Paepe, Boel, Barmada, Sami J., Shorter, James, De Bleecker, Jan L., Bogaert, Elke, and Dermaut, Bart

Published
2023
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9. Efficacy and Safety of Bimagrumab in Sporadic Inclusion Body Myositis: Long-term Extension of RESILIENT.

Author

Amato, Anthony A, Hanna, Michael G, Machado, Pedro M, Badrising, Umesh A, Chinoy, Hector, Benveniste, Olivier, Karanam, Ananda Krishna, Wu, Min, Tankó, László B, Schubert-Tennigkeit, Agnes Annette, Papanicolaou, Dimitris A, Lloyd, Thomas E, Needham, Merrilee, Liang, Christina, Reardon, Katrina A, de Visser, Marianne, Ascherman, Dana P, Barohn, Richard J, Dimachkie, Mazen M, Miller, James AL, Kissel, John T, Oskarsson, Björn, Joyce, Nanette C, Van den Bergh, Peter, Baets, Jonathan, De Bleecker, Jan L, Karam, Chafic, David, William S, Mirabella, Massimiliano, Nations, Sharon P, Jung, Hans H, Pegoraro, Elena, Maggi, Lorenzo, Rodolico, Carmelo, Filosto, Massimiliano, Shaibani, Aziz I, Sivakumar, Kumaraswamy, Goyal, Namita A, Mori-Yoshimura, Madoka, Yamashita, Satoshi, Suzuki, Naoki, Aoki, Masashi, Katsuno, Masahisa, Morihata, Hirokazu, Murata, Kenya, Nodera, Hiroyuki, Nishino, Ichizo, Romano, Carla D, Williams, Valerie SL, Vissing, John, and Zhang Auberson, Lixin

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Clinical Trials and Supportive Activities, Clinical Research, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Accidental Falls, Adult, Aged, Aged, 80 and over, Antibodies, Monoclonal, Humanized, Double-Blind Method, Female, Humans, Male, Middle Aged, Muscle Strength, Myositis, Inclusion Body, Time, Treatment Outcome, Walk Test, RESILIENT Study Extension Group, Neurosciences, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

ObjectiveTo assess long-term (2 years) effects of bimagrumab in participants with sporadic inclusion body myositis (sIBM).MethodsParticipants (aged 36-85 years) who completed the core study (RESILIENT [Efficacy and Safety of Bimagrumab/BYM338 at 52 Weeks on Physical Function, Muscle Strength, Mobility in sIBM Patients]) were invited to join an extension study. Individuals continued on the same treatment as in the core study (10 mg/kg, 3 mg/kg, 1 mg/kg bimagrumab or matching placebo administered as IV infusions every 4 weeks). The co-primary outcome measures were 6-minute walk distance (6MWD) and safety.ResultsBetween November 2015 and February 2017, 211 participants entered double-blind placebo-controlled period of the extension study. Mean change in 6MWD from baseline was highly variable across treatment groups, but indicated progressive deterioration from weeks 24-104 in all treatment groups. Overall, 91.0% (n = 142) of participants in the pooled bimagrumab group and 89.1% (n = 49) in the placebo group had ≥1 treatment-emergent adverse event (AE). Falls were slightly higher in the bimagrumab 3 mg/kg group vs 10 mg/kg, 1 mg/kg, and placebo groups (69.2% [n = 36 of 52] vs 56.6% [n = 30 of 53], 58.8% [n = 30 of 51], and 61.8% [n = 34 of 55], respectively). The most frequently reported AEs in the pooled bimagrumab group were diarrhea 14.7% (n = 23), involuntary muscle contractions 9.6% (n = 15), and rash 5.1% (n = 8). Incidence of serious AEs was comparable between the pooled bimagrumab and the placebo group (18.6% [n = 29] vs 14.5% [n = 8], respectively).ConclusionExtended treatment with bimagrumab up to 2 years produced a good safety profile and was well-tolerated, but did not provide clinical benefits in terms of improvement in mobility. The extension study was terminated early due to core study not meeting its primary endpoint.Clinical trial registrationClinicaltrials.gov identifier NCT02573467.Classification of evidenceThis study provides Class IV evidence that for patients with sIBM, long-term treatment with bimagrumab was safe, well-tolerated, and did not provide meaningful functional benefit. The study is rated Class IV because of the open-label design of extension treatment period 2.

Published
2021

13. Safety and efficacy of oral levosimendan in people with amyotrophic lateral sclerosis (the REFALS study): a randomised, double-blind, placebo-controlled phase 3 trial

Author

Kiernan, Matthew, Mathers, Susan, Henderson, Robert, Needham, Merrilee, Schultz, David, Löscher, Wolfgang, Mitrovic, Nenad, Rath, Jakob, Damme, Philip Van, De Bleecker, Jan L., Delstanche, Stéphanie, Johnston, Wendy, Zinman, Lorne, O'Connell, Colleen, Matte, Genevieve, Dionne, Annie, Korngut, Lawrence, Turnbull, John, Laaksovirta, Hannu, Jokela, Manu, Tapiola, Tero, Soriani, Marie-Hélène, Couratier, Philippe, Camu, William, Corcia, Philippe, Ludolph, Albert, Großkreutz, Julian, Meyer, Thomas, Boentert, Matthias, Schrank, Berthold, Prudlo, Johannes, Untucht, Robert, Hardiman, Orla, Siciliano, Gabriele, Chio', Adriano, Mazzini, Letizia, Inghilleri, Maurizio, Caponnetto, Claudia, Mora, Gabriele, Mora Pardina, Jesús S, Farrero Munoz, Eva, Vázquez Costa, Juan F, Aguera Morales, Eduardo, Varona, Luis, Andersen, Peter, Ingre, Caroline, Johansson, Rune, Radunovic, Aleksandar, Young, Carolyn, Babu, Suma, Shaibani, Aziz, Staff, Nathan, Vu, Tuan, Rivner, Michael, Scelsa, Stephen, Sivakumar, Kumaraswamy, Waheed, Waqar, Heitzman, Daragh, Rana, Sandeep, Pattee, Gary, Ajroud-Driss, Senda, Bayat, Elham, Kasarskis, Edward, Lange, Dale J, Elliott, Michael, Harris, Brent, Felice, Kevin, Pulley, Michael T, Kwan, Justin, Brown, Martin, Ravits, John, Burford, Matthew, Karam, Chafic, Miller, Timothy, Andrews, Jinsy, Levine, Todd, Locatelli, Eduardo, Wymer, James, Bedlack, Richard, Fee, Dominic, Goyal, Namita, Oskarsson, Bjorn, McCluskey, Leo, Caress, James, Weiss, Michael, Quick, Adam, Bromberg, Mark, Lacomis, David, Goutman, Stephen, Rezania, Kourosh, Guliani, Gaurav, Goslin, Kimberly, Katz, Jonathan S, Cudkowicz, Merit, Genge, Angela, Maragakis, Nicholas, Petri, Susanne, van den Berg, Leonard, Aho, Valtteri V, Sarapohja, Toni, Kuoppamäki, Mikko, Garratt, Chris, and Al-Chalabi, Ammar

Published
2021
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14. Safety, efficacy, and tolerability of efgartigimod in patients with generalised myasthenia gravis (ADAPT): a multicentre, randomised, placebo-controlled, phase 3 trial

Author

De Bleecker, Jan L., De Koning, Kathy, De Mey, Katrien, De Pue, Annelien, Mercelis, Rudolf, Wyckmans, Maren, Vinck, Caroline, Wagemaekers, Linda, Baets, Jonathan, Ng, Eduardo, Shabanpour, Jafar, Daniyal, Lubna, Mannan, Shabber, Katzberg, Hans D., Genge, Angela, Siddiqi, Zaeem, Junkerová, Jana, Horakova, Jana, Reguliova, Katerina, Tyblova, Michaela, Jurajdova, Ivana, Novakova, Iveta, Jakubikova, Michala, Pitha, Jiri, Vohanka, Stanislav, Havelkova, Katerina, Horak, Tomas, Bednarik, Josef, Horakova, Mageda, Meisel, Andreas, Remstedt, Dike, Heibutzki, Claudia, Kohler, Siegfried, Gerischer, Lea, Hoffman, Sarah, Stascheit, Frauke, Vissing, John, Zafirakos, Lizzie, Khatri, Kuldeep Kumar, Autzen, Anne, Godtfeldt Stemmerik, Mads Peter, Andersen, Henning, Attarian, Shahram, Salort-Campana, Emmanuelle, Delmont, Emilien, Grapperon, Aude-Marie, Kouton, Ludivine, Tsiskaridze, Alexander, Rózsa, Csilla, Jakab, Gedeonne Margo, Toth, Szilvia, Szabo, Gyorgyi, Bors, David, Szabo, Eniko, Campanella, Angela, Vanoli, Fiammetta, Frangiamore, Rita, Antozzi, Carlo, Bonanno, Silvia, Maggi, Lorenzo, Giossi, Riccardo, Saccà, Francesco, Marsili, Angela, Pane, Chiara, Puorro, Giorgia, Reia, Antonio, Antonini, Giovanni, Alfieri, Girolamo, Morino, Stefania, Garibaldi, Matteo, Fionda, Laura, Leonardi, Luca, Konno, Shingo, Uzawa, Akiyuki, Sakuma, Kaoru, Watanabe, Chiho, Ozawa, Yukiko, Yasuda, Manato, Onishi, Yosuke, Samukawa, Makoto, Tsuda, Tomoko, Suzuki, Yasushi, Ishida, Sayaka, Watanabe, Genya, Takahashi, Masanori, Nakamura, Hiroko, Sugano, Erina, Kubota, Tomoya, Imai, Tomihiro, Suzuki., Mari, Mori, Ayako, Yamamoto, Daisuke, Ikeda, Kazuna, Hisahara, Shin, Masuda, Masayuki, Takaki, Miki, Minemoto, Kanako, Ido, Nobuhiro, Naito, Makiko, Okubo, Yoshihiko, Sugimoto, Takamichi, Takematsu, Yuka, Kamei, Ayumi, Shimizu, Mihiro, Naito, Hiroyuki, Nomura, Eiichi, Van Heur, Marjolein, Peters, Anne-Marie, Tannemaat, Martijn, Ruiter, Annabel, Keene, Kevin, Halas, Marek, Szczudlik, Andrzej, Pinkosz, Marta, Frasinska, Monika, Zwolinska, Grazyna, Kostera-Pruszczyk, Anna, Golenia, Aleksandra, Szczudlik, Piotr, Szczechowski, Lech, Pasko, Aneta, Poverennova, Irina, Urtaeva, Lubov, Kuznetsova, Nadezhda, Romanova, Tatiana, Nadezhda, Malkova, Lapochka, Elena, Korobko, Denis, Vergunova, Ilona, Melnikova, Anna, Bulatova, Ekaterina, Antipenko, Elena, Basta, Ivana, Bozovic, Ivo, Lavrnic, Dragana, Stojanovic, Vidosava Rakocevic, Beydoun, Said, Akhter, Salma, Malekniazi, Ali, Darki, Leila, Pimentel, Norianne, Cannon, Victoria, Chopra, Manisha, Traub, Rebecca, Mozaffar, Tahseen, Hernandez, Isela, Turner, Ivonne, Habib, Ali, Goyal, Namita, Kak, Manisha, Velasquez, Erik, Lam, Lucy, Suresh, Niraja, Farias, Jerrica, Jones, Sarah, Wagoner, Mary, Eggleston, Debbie, Bertorini, Tulio, Benzel, Cindy, Henegar, Robert, Pillai, Rekha, Bharavaju-Sanka, Ratna, Paiz, Carolyn, Jackson, Carlayne, Ruzhansky, Katherine, Dimitrova, Diana, Visser, Amy, Chahin, Nizar, Levine, Todd, Lisak, Robert, Jia, Kelly, Mada, Flicia, Bernitsas, Evanthia, Pasnoor, Mamatha, Roath, Katherine, Colgan, Samantha, Currence, Melissa, Heim, Andrew, Barohn, Richard, Dimachkie, Mazen, Statland, Jeffrey, Jawdat, Omar, Jabari, Duaa, Farmakidis, Constantine, Gilchrist, James, Li, Yuebing, Caristo, Irys, Hastings, Debbie, Morren, John Anthony, Weiss, Michael, Muppidi, Srikanth, Nguyen, Tia, Welsh, Lesly, So, Yuen, Goyal, Neelam, Pulley, Michael, Bailey, Cathy, Quraishi, Zubair, Berger, Alan, Sahagian, Gregory, Camberos, Yasmin, Frishberg, Benjamin, Howard, James F, Jr, Bril, Vera, Vu, Tuan, Karam, Chafic, Peric, Stojan, Margania, Temur, Murai, Hiroyuki, Bilinska, Malgorzata, Shakarishvili, Roman, Smilowski, Marek, Guglietta, Antonio, Ulrichts, Peter, Vangeneugden, Tony, Utsugisawa, Kimiaki, Verschuuren, Jan, and Mantegazza, Renato

Published
2021
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17. 272nd ENMC international workshop: 10 Years of progress - revision of the ENMC 2013 diagnostic criteria for inclusion body myositis and clinical trial readiness. 16–18 June 2023, Hoofddorp, The Netherlands

Author

Lilleker, James B., primary, Naddaf, Elie, additional, Saris, Christiaan G.J., additional, Schmidt, Jens, additional, de Visser, Marianne, additional, Weihl, Conrad C., additional, Alexandersson, Helene, additional, Alfano, Lindsay, additional, Allenbach, Yves, additional, Badrising, Umesh, additional, Benveniste, Olivier, additional, Bhai, Salman, additional, De Bleecker, Jan, additional, Breeveld, Marie Christine, additional, Chinoy, Hector, additional, Diederichsen, Louise, additional, Dimachkie, Mazen, additional, Greenberg, Steven, additional, Johari, Mridul, additional, Lilleker, James, additional, Lindgren, Ulrika, additional, Lloyd, Tom, additional, Machado, Pedro, additional, Mozaffar, Tahseen, additional, Mischke, Roland, additional, Needham, Merrilee, additional, Nishino, Ichizo, additional, Oldfors, Anders, additional, Saris, Christiaan, additional, Stenzel, Werner, additional, Tasca, Giorgio, additional, and Weihl, Conrad, additional

Published
2024
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18. Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy

Author

Neurologen, Brain, Lemmers, Richard J.L.F., Butterfield, Russell, Van Der Vliet, Patrick J., De Bleecker, Jan L., Van Der Pol, Ludo, Dunn, Diane M., Erasmus, Corrie E., D'Hooghe, Marc, Verhoeven, Kristof, Balog, Judit, Bigot, Anne, Van Engelen, Baziel, Statland, Jeffrey, Bugiardini, Enrico, Van Der Stoep, Nienke, Evangelista, Teresinha, Marini-Bettolo, Chiara, Van Den Bergh, Peter, Tawil, Rabi, Voermans, Nicol C., Vissing, John, Weiss, Robert B., Van Der Maarel, Silvere M., Neurologen, Brain, Lemmers, Richard J.L.F., Butterfield, Russell, Van Der Vliet, Patrick J., De Bleecker, Jan L., Van Der Pol, Ludo, Dunn, Diane M., Erasmus, Corrie E., D'Hooghe, Marc, Verhoeven, Kristof, Balog, Judit, Bigot, Anne, Van Engelen, Baziel, Statland, Jeffrey, Bugiardini, Enrico, Van Der Stoep, Nienke, Evangelista, Teresinha, Marini-Bettolo, Chiara, Van Den Bergh, Peter, Tawil, Rabi, Voermans, Nicol C., Vissing, John, Weiss, Robert B., and Van Der Maarel, Silvere M.

Published
2024

19. Discovery of new myositis genetic associations through leveraging other immune-mediated diseases

Author

Lab Reumatologie/Klinische Immunologie, Reales, Guillermo, Amos, Christopher I., Benveniste, Olivier, Chinoy, Hector, De Bleecker, Jan, De Paepe, Boel, Doria, Andrea, Gregersen, Peter K., Lamb, Janine A., Limaye, Vidya, Lundberg, Ingrid E., Machado, Pedro M., Maurer, Britta, Miller, Frederick W., Molberg, Øyvind, Pachman, Lauren M., Padyukov, Leonid, Radstake, Timothy R., Reed, Ann M., Rider, Lisa G., Rothwell, Simon, Selva-O'Callaghan, Albert, Vencovský, Jiri, Wedderburn, Lucy R., Wallace, Chris, Myositis Genetics Consortium, Lab Reumatologie/Klinische Immunologie, Reales, Guillermo, Amos, Christopher I., Benveniste, Olivier, Chinoy, Hector, De Bleecker, Jan, De Paepe, Boel, Doria, Andrea, Gregersen, Peter K., Lamb, Janine A., Limaye, Vidya, Lundberg, Ingrid E., Machado, Pedro M., Maurer, Britta, Miller, Frederick W., Molberg, Øyvind, Pachman, Lauren M., Padyukov, Leonid, Radstake, Timothy R., Reed, Ann M., Rider, Lisa G., Rothwell, Simon, Selva-O'Callaghan, Albert, Vencovský, Jiri, Wedderburn, Lucy R., Wallace, Chris, and Myositis Genetics Consortium

Published
2024

20. Recommendations for the management of myasthenia gravis in Belgium

Author

De Bleecker, Jan, Remiche, Gauthier, Alonso-Jiménez, Alicia, Van Parys, Vinciane, Bissay, Véronique, Delstanche, Stéphanie, Claeys, Kristl G, De Bleecker, Jan, Remiche, Gauthier, Alonso-Jiménez, Alicia, Van Parys, Vinciane, Bissay, Véronique, Delstanche, Stéphanie, and Claeys, Kristl G

Abstract

International guidelines on the treatment of myasthenia gravis (MG) have been published but are not tailored to the Belgian situation. This publication presents recommendations from a group of Belgian MG experts for the practical management of MG in Belgium. It includes recommendations for treatment of adult patients with generalized myasthenia gravis (gMG) or ocular myasthenia gravis (oMG). Depending on the MG-related antibody a treatment sequence is suggested with therapies that can be added on if the treatment goal is not achieved. Selection of treatments was based on the level of evidence of efficacy, registration and reimbursement status in Belgium, common daily practice and the personal views and experiences of the authors. The paper reflects the situation in February 2024. In addition to the treatment considerations, other relevant aspects in the management of MG are addressed, including comorbidities, drugs aggravating disease symptoms, pregnancy, and vaccination. As many new treatments might potentially come to market, a realistic future perspective on the impact of these treatments on clinical practice is given. In conclusion, these recommendations intend to be a guide for neurologists treating patients with MG in Belgium., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2024

21. Long-term efficacy and safety of eculizumab in Japanese patients with generalized myasthenia gravis: A subgroup analysis of the REGAIN open-label extension study

Author

Mazia, Claudio Gabriel, Wilken, Miguel, Barroso, Fabio, Saba, Juliet, Rugiero, Marcelo, Bettini, Mariela, Chaves, Marcelo, Vidal, Gonzalo, Garcia, Alejandra Dalila, De Bleecker, Jan, Van den Abeele, Guy, de Koning, Kathy, De Mey, Katrien, Mercelis, Rudy, Mahieu, Délphine, Wagemaekers, Linda, Van Damme, Philip, Depreitere, Annelies, Schotte, Caroline, Smetcoren, Charlotte, Stevens, Olivier, Van Daele, Sien, Vandenbussche, Nicolas, Vanhee, Annelies, Verjans, Sarah, Vynckier, Jan, D'Hondt, Ann, Tilkin, Petra, Alves de Siqueira Carvalho, Alzira, Dias Brockhausen, Igor, Feder, David, Ambrosio, Daniel, César, Pamela, Melo, Ana Paula, Martins Ribeiro, Renata, Rocha, Rosana, Bezerra Rosa, Bruno, Veiga, Thabata, da Silva, Luiz Augusto, Santos Engel, Murilo, Gonçalves Geraldo, Jordana, Ananias Morita, Maria da Penha, Nogueira Coelho, Erica, Paiva, Gabriel, Pozo, Marina, Prando, Natalia, Martineli Torres, Debora Dada, Butinhao, Cristiani Fernanda, Duran, Gustavo, Gomes da Silva, Tamires Cristina, Otavio Maia Gonçalves, Luiz, Pazetto, Lucas Eduardo, Fialho, Tomás Augusto Suriane, Renata Cubas Volpe, Luciana, Souza Duca, Luciana, Souza Bulle Oliveira, Acary, Amaral Andrade, Ana Carolina, Annes, Marcelo, Duarte Silva, Liene, Cavalcante Lino, Valeria, Pinto, Wladimir, Assis, Natália, Carrara, Fernanda, Miranda, Carolina, Souza, Iandra, Fernandes, Patricia, Siddiqi, Zaeem, Phan, Cecile, Narayan, Jeffrey, Blackmore, Derrick, Mallon, Ashley, Roderus, Rikki, Watt, Elizabeth, Junkerova, Jana, Kurkova, Barbora, Reguliova, Katarina, Zapletalova, Olga, Pitha, Jiri, Novakova, Iveta, Tyblova, Michaela, Jurajdova, Ivana, Wolfova, Marcela, Andersen, Henning, Harbo, Thomas, Vinge, Lotte, Krogh, Susanne, Mogensen, Anita, Vissing, John, Højgaard, Joan, Witting, Nanna, Mette Ostergaard Autzen, Anne, Pedersen, Jane, Eralinna, Juha-Pekka, Laaksonen, Mikko, Oksaranta, Olli, Harrison, Tuula, Eriksson, Jaana, Rozsa, Csilla, Horvath, Melinda, Lovas, Gabor, Matolcsi, Judit, Szabo, Gyorgyi, Jakab, Gedeonne, Szabadosne, Brigitta, Antonini, Giovanni, Di Pasquale, Antonella, Garibaldi, Matteo, Morino, Stefania, Troili, Fernanda, Fionda, Laura, Filla, Allessandro, Costabile, Teresa, Marano, Enrico, Saccà, Francesco, Fasanaro, Angiola, Marsili, Angela, Puorro, Giorgia, Mantegazza, Renato, Antozzi, Carlo, Bonanno, Silvia, Camera, Giorgia, Locatelli, Alberta, Maggi, Lorenzo, Pasanisi, Maria, Campanella, Angela, Evoli, Amelia, Alboini, Paolo Emilio, D'Amato, Valentina, Iorio, Raffaele, Kanai, Tetsuya, Kawaguchi, Naoki, Mori, Masahiro, Kaneko, Yoko, Kanzaki, Akiko, Kobayashi, Eri, Masaki, Katsuhisa, Matsuse, Dai, Matsushita, Takuya, Uehara, Taira, Shimpo, Misa, Jingu, Maki, Kikutake, Keiko, Nakamura, Yumiko, Sano, Yoshiko, Nagane, Yuriko, Kamegamori, Ikuko, Tsuda, Tomoko, Fujii, Yuko, Futono, Kazumi, Ozawa, Yukiko, Mizugami, Aya, Saito, Yuka, Morikawa, Miyuki, Samukawa, Makoto, Kamakura, Sachiko, Miyawaki, Eriko, Mitazaki, Teiichiro, Motomura, Masakatsu, Mukaino, Akihiro, Yoshimura, Shunsuke, Asada, Shizuka, Yoshida, Seiko, Amamoto, Shoko, Kobashikawa, Tomomi, Koga, Megumi, Maeda, Yasuko, Takada, Kazumi, Takada, Mihoko, Tsurumaru, Masako, Yamashita, Yumi, Akiyama, Tetsuya, Narikawa, Koichi, Tano, Ohito, Tsukita, Kenichi, Kurihara, Rikako, Meguro, Fumie, Fukuda, Yusuke, Sato, Miwako, Funaka, Soichiro, Kawamura, Tomohiro, Makamori, Masayuki, Takahashi, Masanori, Taichi, Namie, Hasuike, Tomoya, Higuchi, Eriko, Kobayashi, Hisako, Osakada, Kaori, Tsuda, Emiko, Shimohama, Shun, Hayashi, Takashi, Hisahara, Shin, Kawamata, Jun, Murahara, Takashi, Saitoh, Masaki, Suzuki, Shuichiro, Yamamoto, Daisuke, Ishiyama, Yoko, Ishiyama, Naoko, Noshiro, Mayuko, Takeyama, Rumi, Uwasa, Kaori, Yasuda, Ikuko, van der Kooi, Anneke, de Visser, Marianne, Gibson, Tamar, Casasnovas, Carlos, Alberti Aguilo, Maria Antonia, Homedes-Pedret, Christian, Julia Palacios, Natalia, Diez Porras, Laura, Velez Santamaria, Valentina, Lazaro, Ana, Diez Tejedor, Exuperio, Gomez Salcedo, Pilar, Fernandez-Fournier, Mireya, Lopez Ruiz, Pedro, Rodriguez de Rivera, Francisco Javier, Sastre, Maria, Gamez, Josep, Sune, Pilar, Salvado, Maria, Gili, Gisela, Mazuela, Gonzalo, Illa, Isabel, Cortes Vicente, Elena, Diaz-Manera, Jordi, Querol Gutierrez, Luis Antonio, Rojas Garcia, Ricardo, Vidal, Nuria, Arribas-Ibar, Elisabet, Piehl, Fredrik, Hietala, Albert, Bjarbo, Lena, Sengun, Ihsan, Meherremova, Arzu, Ozcelik, Pinar, Balkan, Bengu, Tuga, Celal, Ugur, Muzeyyen, Erdem-Ozdamar, Sevim, Bekircan-Kurt, Can Ebru, Acar, Nazire Pinar, Yilmaz, Ezgi, Caliskan, Yagmur, Orsel, Gulsah, Efendi, Husnu, Aydinlik, Seda, Cavus, Hakan, Kutlu, Ayse, Becerikli, Gulsah, Semiz, Cansu, Tun, Ozlem, Terzi, Murat, Dogan, Baki, Onar, Musa Kazim, Sen, Sedat, Kirbas Cavdar, Tugce, Veske, Adife, Norwood, Fiona, Dimitriou, Aikaterini, Gollogly, Jakit, Mahdi-Rogers, Mohamed, Seddigh, Arshira, Sokratous, Giannis, Maier, Gal, Sohail, Faisal, Jacob, Saiju, Sadalage, Girija, Torane, Pravin, Brown, Claire, Shah, Amna, Sathasivam, Sivakumar, Arndt, Heike, Davies, Debbie, Watling, Dave, Amato, Anthony, Cochrane, Thomas, Salajegheh, Mohammed, Roe, Kristen, Amato, Katherine, Toska, Shirli, Wolfe, Gil, Silvestri, Nicholas, Patrick, Kara, Zakalik, Karen, Katz, Jonathan, Miller, Robert, Engel, Marguerite, Forshew, Dallas, Bravver, Elena, Brooks, Benjamin, Plevka, Sarah, Burdette, Maryanne, Cunningham, Scott, Sanjak, Mohammad, Kramer, Megan, Nemeth, Joanne, Schommer, Clara, Tierney, Scott, Juel, Vern, Guptill, Jeffrey, Hobson-Webb, Lisa, Massey, Janice, Beck, Kate, Carnes, Donna, Loor, John, Anderson, Amanda, Pascuzzi, Robert, Bodkin, Cynthia, Kincaid, John, Snook, Riley, Guingrich, Sandra, Micheels, Angela, Chaudhry, Vinay, Corse, Andrea, Mosmiller, Betsy, Kelley, Andrea, Ho, Doreen, Srinivasan, Jayashri, Vytopil, Michal, Jara, Jordan, Ventura, Nicholas, Scala, Stephanie, Carter, Cynthia, Donahue, Craig, Herbert, Carol, Weiner, Elaine, Alam, Sharmeen, McKinnon, Jonathan, Haar, Laura, McKinnon, Naya, Alcon, Karan, McKenna, Kaitlyn, Sattar, Nadia, Daniels, Kevin, Jeffery, Dennis, Freimer, Miriam, Hoyle, Joseph Chad, Kissel, John, Agriesti, Julie, Chelnick, Sharon, Mezache, Louisa, Pineda, Colleen, Muharrem, Filiz, Karam, Chafic, Khoury, Julie, Marburger, Tessa, Kaur, Harpreet, Dimitrova, Diana, Gilchrist, James, Agrawal, Brajesh, Elsayed, Mona, Kohlrus, Stephanie, Andoin, Angela, Darnell, Taylor, Golden, Laura, Lokaitis, Barbara, Seelback, Jenna, Muppidi, Srikanth, Goyal, Neelam, Sakamuri, Sarada, So, Yuen T., Paulose, Shirley, Pol, Sabrina, Welsh, Lesly, Bhavaraju-Sanka, Ratna, Tobon Gonzales, Alejandro, Dishman, Lorraine, Jones, Floyd, Gonzalez, Anna, Padilla, Patricia, Saklad, Amy, Silva, Marcela, Kazamel, Mohamed, Alsharabati, Mohammad, Lu, Liang, Nozaki, Kenkichi, Mumfrey-Thomas, Sandi, Woodall, Amy, Mozaffar, Tahseen, Cash, Tiyonnoh, Goyal, Namita, Roy, Gulmohor, Mathew, Veena, Maqsood, Fatima, Minton, Brian, Jones, H. James, Rosenfeld, Jeffrey, Garcia, Rebekah, Echevarria, Laura, Garcia, Sonia, Pulley, Michael, Aranke, Shachie, Berger, Alan Ross, Shah, Jaimin, Shabbir, Yasmeen, Smith, Lisa, Varghese, Mary, Gutmann, Laurie, Gutmann, Ludwig, Jerath, Nivedita, Nance, Christopher, Swenson, Andrea, Olalde, Heena, Kressin, Nicole, Sieren, Jeri, Barohn, Richard, Dimachkie, Mazen, Glenn, Melanie, McVey, April, Pasnoor, Mamatha, Statland, Jeffery, Wang, Yunxia, Liu, Tina, Emmons, Kelley, Jenci, Nicole, Locheke, Jerry, Fondaw, Alex, Johns, Kathryn, Rico, Gabrielle, Walsh, Maureen, Herbelin, Laura, Hafer-Macko, Charlene, Kwan, Justin, Zilliox, Lindsay, Callison, Karen, Young, Valerie, DiSanzo, Beth, Naunton, Kerry, Benatar, Michael, Bilsker, Martin, Sharma, Khema, Cooley, Anne, Reyes, Eliana, Michon, Sara-Claude, Sheldon, Danielle, Steele, Julie, Howard Jr, James, Chopra, Manisha, Traub, Rebecca, Vu, Tuan, Katzin, Lara, McClain, Terry, Harvey, Brittany, Hart, Adam, Huynh, Kristin, Beydoun, Said, Chilingaryan, Amaiak, Doan, Victor, Droker, Brian, Gong, Hui, Karimi, Sanaz, Lin, Frank, Pokala, Krishna, Shah, Akshay, Tran, Anh, Akhter, Salma, Malekniazi, Ali, Tandan, Rup, Hehir, Michael, Waheed, Waqar, Lucy, Shannon, Weiss, Michael, Distad, Jane, Strom, Susan, Downing, Sharon, Kim, Bryan, Nowak, Richard, Dicapua, Daniel, Keung, Benison, Kumar, Aditya, Patwa, Huned, Robeson, Kimberly, Yang, Irene, Nye, Joan, Vu, Hong, Murai, Hiroyuki, Uzawa, Akiyuki, Suzuki, Yasushi, Imai, Tomihiro, Shiraishi, Hirokazu, Suzuki, Hidekazu, Okumura, Meinoshin, O’Brien, Fanny, Wang, Jing-Jing, Fujita, Kenji P., and Utsugisawa, Kimiaki

Published
2019
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23. Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial

Author

Hanna, Michael G, Badrising, Umesh A, Benveniste, Olivier, Lloyd, Thomas E, Needham, Merrilee, Chinoy, Hector, Aoki, Masashi, Machado, Pedro M, Liang, Christina, Reardon, Katrina A, de Visser, Marianne, Ascherman, Dana P, Barohn, Richard J, Dimachkie, Mazen M, Miller, James A L, Kissel, John T, Oskarsson, Björn, Joyce, Nanette C, Van den Bergh, Peter, Baets, Jonathan, De Bleecker, Jan L, Karam, Chafic, David, William S, Mirabella, Massimiliano, Nations, Sharon P, Jung, Hans H, Pegoraro, Elena, Maggi, Lorenzo, Rodolico, Carmelo, Filosto, Massimiliano, Shaibani, Aziz I, Sivakumar, Kumaraswamy, Goyal, Namita A, Mori-Yoshimura, Madoka, Yamashita, Satoshi, Suzuki, Naoki, Katsuno, Masahisa, Murata, Kenya, Nodera, Hiroyuki, Nishino, Ichizo, Romano, Carla D, Williams, Valerie S L, Vissing, John, Auberson, Lixin Zhang, Wu, Min, de Vera, Ana, Papanicolaou, Dimitris A, and Amato, Anthony A

Published
2019
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25. Long-term safety, tolerability, and efficacy of efgartigimod in patients with generalized myasthenia gravis: Concluding analyses from the ADAPT+ study

Author

Bril, Vera, primary, Pasnoor, Mamatha, additional, Karam, Chafic, additional, Peric, Stojan, additional, De Bleecker, Jan L., additional, Murai, Hiroyuki, additional, Meisel, Andreas, additional, Beydoun, Said, additional, Vu, Tuan, additional, Ulrichts, Peter, additional, Van Hoorick, Benjamin, additional, T'Joen, Caroline, additional, Kaprielian, Roger, additional, Utsugisawa, Kimiaki, additional, Verschuuren, Jan, additional, Mantegazza, Renato, additional, and Howard, James F., additional

Published
2023
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26. Efgartigimod demonstrates consistent improvements in patients with generalized myasthenia gravis regardless of prior treatment failures

Author

Siddiqi, Zaeem, primary, Rozsa, Csilla, additional, Saccá, Francesco, additional, De Bleecker, Jan L., additional, Verschuuren, Jan, additional, Hoffmann, Sarah, additional, Vu, Tuan, additional, Bril, Vera, additional, Murai, Hiroyuki, additional, Brauer, Edward, additional, Kerstens, René, additional, Steeland, Sophie, additional, Ulrichts, Peter, additional, Goyal, Neelam, additional, Vissing, John, additional, Mantegazza, Renato, additional, and Howard, James F., additional

Published
2023
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28. Clinical variability and onset age modifiers in an extended Belgian GRN founder family

Author

Goeman, Johan, Nuytten, Dirk, Vandenbulcke, Mathieu, Michotte, Alex, Salmon, Eric, Deryck, Olivier, Bergmans, Bruno, Willems, Christiana, Delbeck, Jean, Wauters, Eline, Van Mossevelde, Sara, Sleegers, Kristel, van der Zee, Julie, Engelborghs, Sebastiaan, Sieben, Anne, Vandenberghe, Rik, Philtjens, Stéphanie, Van den Broeck, Marleen, Peeters, Karin, Cuijt, Ivy, De Coster, Wouter, Van Langenhove, Tim, Santens, Patrick, Ivanoiu, Adrian, Cras, Patrick, De Bleecker, Jan L., Versijpt, Jan, Crols, Roeland, De Klippel, Nina, Martin, Jean-Jacques, De Deyn, Peter P., Cruts, Marc, and Van Broeckhoven, Christine

Published
2018
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29. 205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies Part II 28–30 March 2014, Naarden, The Netherlands

Author

De Bleecker, Jan L., De Paepe, Boel, Aronica, Eleonora, de Visser, Marianne, Amato, Anthony, Benveniste, Olivier, De Bleecker, Jan, de Boer, Onno, Dimachkie, Mazen, Gherardi, Romain, Goebel, Hans Hilmar, Hilton-Jones, David, Holton, Janice, Lundberg, Ingrid E., Mammen, Andrew, Mastaglia, Frank, Nishino, Ichizo, Rushing, Elisabeth, Daa Schroder, Henrik, Selcen, Duygu, and Stenzel, Werner

Published
2015
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34. Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy

Author

Lemmers, Richard J L F, primary, Butterfield, Russell, additional, van der Vliet, Patrick J, additional, de Bleecker, Jan L, additional, van der Pol, Ludo, additional, Dunn, Diane M, additional, Erasmus, Corrie E, additional, D'Hooghe, Marc, additional, Verhoeven, Kristof, additional, Balog, Judit, additional, Bigot, Anne, additional, van Engelen, Baziel, additional, Statland, Jeffrey, additional, Bugiardini, Enrico, additional, van der Stoep, Nienke, additional, Evangelista, Teresinha, additional, Marini-Bettolo, Chiara, additional, van den Bergh, Peter, additional, Tawil, Rabi, additional, Voermans, Nicol C, additional, Vissing, John, additional, Weiss, Robert B, additional, and van der Maarel, Silvère M, additional

Published
2023
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35. 130 Low Gene Copy Numbers (GCN) of complement C4 and C4A deficiency are highly significant genetic risk factors for idiopathic inflammatory myopathies and its major subgroups

Author

Zhou, Danlei, primary, King, Emily, additional, Rothwell, Simon, additional, Kryštůfková, Olga, additional, Notarnicola, Antonella, additional, Coss, Samantha, additional, Aziz, Rabheh, additional, Miller, Katherine, additional, Dang, Amanda, additional, Yu, Richard, additional, Drew, Joanne, additional, Lundstrom, Emeli, additional, Pachman, Lauren, additional, Mamyrova, Gulnara, additional, Curiel, Rodolfo, additional, De Paepe, Boel, additional, De Bleecker, Jan, additional, Payton, Antony, additional, Ollier, William, additional, O'Hanlon, Terrance, additional, Targoff, Ira, additional, Flegel, Willy, additional, Sivaraman, Vidya, additional, Obele, Edward, additional, Akoghlanian, Shoghik, additional, Driest, Kyla, additional, Spencer, Charles, additional, Ling Wu, Yee, additional, Nagaraja, Haikady, additional, Ardoin, Stacy, additional, Chinoy, Hector, additional, Rider, Lisa, additional, Miller, Frederick, additional, Lundberg, Ingrid, additional, Padyukov, Leonid, additional, Vencovský, Jiří, additional, Lamb, Janine, additional, and Yu, Chack-Yung, additional

Published
2023
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36. Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy

Author

Schiava, Marianela, primary, Ikenaga, Chiseko, additional, Topf, Ana, additional, Caballero-Ávila, Marta, additional, Chou, Tsui-Fen, additional, Li, Shan, additional, Wang, Feng, additional, Daw, Jil, additional, Stojkovic, Tanya, additional, Villar-Quiles, Rocio, additional, Nishino, Ichizo, additional, Inoue, Michio, additional, Nishimori, Yukako, additional, Saito, Yoshihiko, additional, Katsuno, Masahisa, additional, Noda, Seiya, additional, Ito, Chihiro, additional, Otsuka, Mieko, additional, Nahir, Sruthi, additional, Manousakis, Georgios, additional, Walk, David, additional, Quinn, Colin, additional, Alfano, Lindsay, additional, Sahenk, Zarife, additional, Tasca, Giorgio, additional, Monforte, Mauro, additional, Sabatelli, Mario, additional, Bisogni, Giulia, additional, Oldfors, Anders, additional, Rydeliu, Anna, additional, Pal, Endre, additional, Paradas, Carmen, additional, Velez, Beatriz, additional, De Bleecker, Jan L., additional, Farugia, Maria Elena, additional, Longman, Cheryl, additional, Harms, Matthew B., additional, Ralston, Stuart, additional, Zanoteli, Edmar, additional, Macedo Serafim da Silva, Andre, additional, Sotoca, Javier, additional, Juntas-Morales, Raul, additional, Bevilacqua, Jorge, additional, Balart, Mireya, additional, Talbot, Stuart, additional, Straub, Volker, additional, Guglieri, Michela, additional, Marini-Bettolo, Chiara, additional, Diaz-Manera, Jordi, additional, and Weihl, Conrad Chris, additional

Published
2023
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37. Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study

Author

Mazia, Claudio Gabriel, Wilken, Miguel, Ortea, Carolina, Saba, Juliet, Rugiero, Marcelo, Bettini, Mariela, Vidal, Gonzalo, Garcia, Alejandra Dalila, Lamont, Phillipa, Leong, Wai-Kuen, Boterhoven, Heidi, Fyfe, Beverly, Roberts, Leslie, Jasinarachchi, Mahi, Willlems, Natasha, Wanschitz, Julia, Löscher, Wolfgang, De Bleecker, Jan, Van den Abeele, Guy, de Koning, Kathy, De Mey, Katrien, Mercelis, Rudy, Wagemaekers, Linda, Mahieu, Delphine, Van Damme, Philip, Smetcoren, Charlotte, Stevens, Olivier, Verjans, Sarah, D'Hondt, Ann, Tilkin, Petra, Alves de Siqueira Carvalho, Alzira, Hasan, Rosa, Dias Brockhausen, Igor, Feder, David, Ambrosio, Daniel, Melo, Ana Paula, Rocha, Rosana, Rosa, Bruno, Veiga, Thabata, Augusto da Silva, Luiz, Gonçalves Geraldo, Jordana, da Penha Morita Ananias, Maria, Nogueira Coelho, Erica, Paiva, Gabriel, Pozo, Marina, Prando, Natalia, Dada Martineli Torres, Debora, Fernanda Butinhao, Cristiani, Coelho, Erica, Renata Cubas Volpe, Luciana, Duran, Gustavo, Gomes da Silva, Tamires Cristina, Otavio Maia Gonçalves, Luiz, Pazetto, Lucas Eduardo, Souza Duca, Luciana, Suriane Fialho, Tomás Augusto, Gheller Friedrich, Maurício André, Guerreiro, Alexandre, Mohr, Henrique, Pereira Martins, Maurer, da Cruz Pacheco, Daiane, Macagnan, Ana Paula, de Cassia Santos, Aline, Bulle Oliveira, Acary Souza, Amaral de Andrade, Ana Carolina, Annes, Marcelo, Cavalcante Lino, Valeria, Pinto, Wladimir, Miranda, Carolina, Carrara, Fernanda, Souza, Iandra, Genge, Angela, Massie, Rami, Campbell, Natasha, Bril, Vera, Katzberg, Hans, Soltani, Mehran, Ng, Eduardo, Siddiqi, Zaeem, Phan, Celile, Blackmore, Derrick, Vohanka, Stanislav, Bednarik, Josef, Chmelikova, Magda, Cierny, Marek, Toncrova, Stanislava, Junkerova, Jana, Kurkova, Barbora, Reguliova, Katarina, Zapletalova, Olga, Pitha, Jiri, Novakova, Iveta, Tyblova, Michaela, Wolfova, Marcela, Jurajdova, Ivana, Andersen, Henning, Harbo, Thomas, Vinge, Lotte, Mogensen, Anita, Højgaard, Joan, Witting, Nanna, Autzen, Anne Mette, Pedersen, Jane, Färkkilä, Markus, Atula, Sari, Nyrhinen, Anne, Erälinna, Juha-Pekka, Laaksonen, Mikko, Oksaranta, Olli, Eriksson, Jaana, Harrison, Tuula, Desnuelle, Claude, Sacconi, Sabrina, Soriani, Marie-Hélène, Decressac, Sonia, Moutarde, Julie, Lahaut, Pauline, Solé, Guilhem, Le Masson, Gwendal, Wielanek-Bachelet, Anne-Cécile, Gaboreau, Morgane, Moreau, Caroline, Wilson, Amy, Vial, Christophe, Bouhour, Françoise, Gervais-Bernard, Helene, Merle, Hélène, Hourquin, Caroline, Lacour, Arnaud, Outteryck, Olivier, Vermersch, Patrick, Zephir, Hélène, Millois, Edouard, Deneve, Michel, Deruelle, Fabienne, Schoser, Benedikt, Wenninger, Stephan, Stangel, Martin, Alvermann, Sascha, Gingele, Stefan, Skripuletz, Thomas, Suehs, Kurt-Wolfram, Trebst, Corinna, Fricke, Karin, Papagiannopoulos, Sotirios, Bostantzopoulou, Sevasti, Vlaikidis, Nicholas, Zampaki, Martha, Papadopoulou, Nikoletta, Mitsikostas, Dimos-Dimitrios, Kasioti, Eleni, Mitropoulou, Efstathia, Charalambous, Despoina, Rozsa, Csilla, Horvath, Melinda, Lovas, Gabor, Matolcsi, Judit, Szabo, Gyorgyi, Szabadosne, Brigitta, Vecsei, Laszlo, Dezsi, Livia, Varga, Edina, Konyane, Monika, Gross, Bella, Azrilin, Olga, Greenbereg, Nelly, Bali Kuperman, Hila, Antonini, Giovanni, Garibaldi, Matteo, Morino, Stefania, Troili, Fernanda, Di Pasquale, Antonella, Filla, Alessandro, Costabile, Teresa, Marano, Enrico, Sacca, Francesco, Marsil, Angela, Puorro, Giorgia, Maestri Tassoni, Michelangelo, De Rosa, Anna, Bonanno, Silvia, Antozzi, Carlo, Maggi, Lorenzo, Campanella, Angela, Angelini, Corrado, Cudia, Paola, Pegoraro, Valentina, Pinzan, Elena, Bevilacqua, Francesca, Orrico, Daniele, Bonifati, Domenico Marco, Evoli, Amelia, Alboini, Paolo Emilio, D'Amato, Valentina, Iorio, Raffaele, Inghilleri, Maurizio, Fionda, Laura, Frasca, Vittorio, Giacomelli, Elena, Gori, Maria, Lopergolo, Diego, Onesti, Emanuela, Gabriele, Maria, Patti, Francesco, Salvatore Caramma, Andrea, Messina, Silvia, Reggio, Ester, Caserta, Cinzia, Uzawa, Akiyuki, Kanai, Tetsuya, Mori, Masahiro, Kaneko, Yoko, Kanzaki, Akiko, Kobayashi, Eri, Masaki, Katsuhisa, Matsuse, Dai, Matsushita, Takuya, Uehara, Taira, Shimpo, Misa, Jingu, Maki, Kikutake, Keiko, Nakamura, Yumiko, Sano, Yoshiko, Nagane, Yuriko, Kamegamori, Ikuko, Fujii, Yuko, Futono, Kazumi, Tsuda, Tomoko, Saito, Yuka, Suzuki, Hidekazu, Morikawa, Miyuki, Samukawa, Makoto, Kamakura, Sachiko, Shiraishi, Hirokazu, Mitazaki, Teiichiro, Motomura, Masakatsu, Mukaino, Akihiro, Yoshimura, Shunsuke, Asada, Shizuka, Kobashikawa, Tomomi, Koga, Megumi, Maeda, Yasuko, Takada, Kazumi, Takada, Mihoko Takada, Yamashita, Yumi, Yoshida, Seiko, Suzuki, Yasushi, Akiyama, Tetsuya, Narikawa, Koichi, Tsukita, Kenichi, Meguro, Fumie, Fukuda, Yusuke, Sato, Miwako, Matsuo, Hidenori, Fukudome, Takayasu, Gondo, Yuichiro, Maeda, Yasuhiro, Nagaishi, Akiko, Nakane, Shunya, Okubo, Yoshinori, Okumura, Meinoshin, Funaka, Soichiro, Kawamura, Tomohiro, Makamori, Masayuki, Takahashi, Masanori, Hasuike, Tomoya, Higuchi, Eriko, Kobayashi, Hisako, Osakada, Kaori, Taichi, Namie, Tsuda, Emiko, Hayashi, Takashi, Hisahara, Shin, Imai, Tomihiro, Kawamata, Jun, Murahara, Takashi, Saitoh, Masaki, Shimohama, Shun, Suzuki, Shuichiro, Yamamoto, Daisuke, Konno, Shingo, Imamura, Tomomi, Inoue, Masashi, Murata, Mayumi, Nakazora, Hiroshi, Nakayama, Ritsu, Ikeda, Yasuko, Ogawa, Miki, Shirane, Maoko, Kanda, Takashi, Kawai, Motoharu, Koga, Michiaki, Ogasawara, Junichi, Omoto, Masatoshi, Sano, Yasuteru, Arima, Hideki, Fukui, Sachie, Shimose, Shigemi, Shinozaki, Hirokazu, Watanabe, Masanori, Yoshikawa, Chieko, van der Kooi, Anneke, de Visser, Marianne, Gibson, Tamar, Maessen, Jos, de Baets, Marc, Faber, Catherine, Keijzers, Maria Johanna, Miesen, Monique, Kostera-Pruszczyk, Anna, Kaminska, Anna, Kim, Byung-Jo, Lee, Chang Nyoung, Koo, Yong Seo, Seok, Hung Youl, Kang, Hoo Nam, Ra, HyeJin, Kim, Byoung Joon, Cho, Eun Bin, Lee, HyeLim, Min, Ju-Hong, Seok, Jinmyoung, Koh, Da Yoon, Kwon, JuYoung, Lee, JiEun, Park, SangAe, Hong, Yoon-Ho, Lim, Jae-Sung, Kim, MiRi, Kim, Seung Min, Kim, Yool-hee, Lee, Hyung Seok, Shin, Ha Young, Hwang, Eun Bi, Shin, MiJu, Sazonov, Denis, Yarmoschuk, Asya, Babenko, Larisa, Malkova, Nadezhda, Melnikova, Anna, Korobko, Denis, Kosykh, Evgeniya, Pokhabov, Dmitry, Nesterova, Yulia, Abramov, Vladislav, Balyazin, Victor, Casasnovas Pons, Carlos, Alberti Aguilo, Maria, Homedes-Pedret, Christian, Palacios, Natalia Julia, Lazaro, Ana, Diez Tejedor, Exuperio, Fernandez-Fournier, Mireya, Lopez Ruiz, Pedro, Rodriguez de Rivera, Francisco Javier, Salvado Figueras, Maria, Gamez, Josep, Salvado, Maria, Cortes Vicente, Elena, Diaz-Manera, Jordi, Querol Gutierrez, Luis, Rojas Garcia, Ricardo, Vidal, Nuria, Arribas-Ibar, Elisabet, Piehl, Fredrik, Hietala, Albert, Bjarbo, Lena, Lindberg, Christopher, Jons, Daniel, Andersson, Blanka, Sengun, Ihsan, Ozcelik, Pinar, Tuga, Celal, Ugur, Muzeyyen, Boz, Cavit, Altiparmak, Didem, Gazioglu, Sibel, Ozen Aydin, Cigdem, Erdem-Ozdamar, Sevim, Bekircan-Kurt, Can Ebru, Yilmaz, Ezgi, Acar, Nazire Pinar, Caliskan, Yagmur, Efendi, Husnu, Aydinlik, Seda, Cavus, Hakan, Semiz, Cansu, Tun, Ozlem, Terzi, Murat, Dogan, Baki, Onar, Musa Kazim, Sen, Sedat, Cavdar, Tugce Kirbas, Norwood, Fiona, Dimitriou, Aikaterini, Gollogly, Jakit, Mahdi-Rogers, Mohamed, Seddigh, Arshira, Maier, Gal, Sohail, Faisal, Sathasivam, Sivakumar, Arndt, Heike, Davies, Debbie, Watling, Dave, Rivner, Michael, Hartmann, J. Edward, Quarles, Brandy, Smalley, Nicole, Amato, Anthony, Cochrane, Thomas, Salajegheh, Mohammed, Roe, Kristen, Amato, Katherine, Toska, Shirli, Wolfe, Gil, Silvestri, Nicholas, Patrick, Kara, Zakalik, Karen, Katz, Jonathan, Miller, Robert, Engel, Marguerite, Bravver, Elena, Brooks, Benjamin, Plevka, Sarah, Burdette, Maryanne, Sanjak, Mohammad, Kramer, Megan, Nemeth, Joanne, Schommer, Clara, Juel, Vern, Guptill, Jeffrey, Hobson-Webb, Lisa, Beck, Kate, Carnes, Donna, Loor, John, Anderson, Amanda, Lange, Dale, Agopian, Eliz, Goldstein, Jonathan, Manning, Erin, Kaplan, Lindsay, Holzberg, Shara, Kassebaum, Nicole, Pascuzzi, Robert, Bodkin, Cynthia, Kincaid, John, Snook, Riley, Guinrich, Sandra, Micheels, Angela, Chaudhry, Vinay, Corse, Andrea, Mosmiller, Betsy, Ho, Doreen, Srinivasan, Jayashri, Vytopil, Michael, Ventura, Nicholas, Scala, Stephanie, Carter, Cynthia, Donahue, Craig, Herbert, Carol, Weiner, Elaine, McKinnon, Jonathan, Haar, Laura, McKinnon, Naya, Alcon, Karan, Daniels, Kevin, Sattar, Nadia, Jeffery, Dennis, McKenna, Kaitlyn, Guidon, Amanda, David, William, Dheel, Christina, Levine-Weinberg, Mark, Nigro, Catherine, Simpson, Ericka, Appel, Stanley H, Lai, Eugene, Lay, Jr, Luis, Pleitez, Milvia, Halton, Sharon, Faigle, Casey, Thompson, Lisa, Sivak, Mark, Shin, Susan, Bratton, Joan, Jacobs, Daniel, Brown, Gavin, Bandukwala, Ibrez, Brown, Morris, Kane, Jennifer, Blount, Ira, Freimer, Miriam, Hoyle, J. Chad, Agriesti, Julie, Khoury, Julie, Marburger, Tessa, Kaur, Harpreet, Dimitrova, Diana, Mellion, Michelle, Sachs, George, Crabtree, Brigid, Keo, Roseann, Perez, Ele Kim, Taber, Sandra, Gilchrist, James, Andoin, Angela, Darnell, Taylor, Goyal, Neelam, Sakamuri, Sarada, So, Yuen T, Welsh, Lesly Welsh, Bhavaraju-Sanka, Ratna, Tobon Gonzalez, Alejandro, Jones, Floyd, Saklad, Amy, Nations, Sharon, Trivedi, Jaya, Hopkins, Steve, Kazamel, Mohamed, Alsharabati, Mohammad, Lu, Liang, Mumfrey-Thomas, Sandi, Woodall, Amy, Richman, David, Butters, Janelle, Lindsay, Molly, Mozaffar, Tahseen, Cash, Tiyonnoh, Goyal, Namita, Roy, Gulmohor, Mathew, Veena, Maqsood, Fatima, Minton, Brian, Jones, H. James, Rosenfeld, Jeffrey, Garcia, Rebekah, Garcia, Sonia, Echevarria, Laura, Pulley, Michael, Aranke, Shachie, Berger, Alan Ross, Shah, Jaimin, Shabbir, Yasmeen, Smith, Lisa, Varghese, Mary, Gutmann, Laurie, Gutmann, Ludwig, Swenson, Andrea, Olalde, Heena, Hafer-Macko, Charlene, Kwan, Justin, Zilliox, Lindsay, Callison, Karen, DiSanzo, Beth, Naunton, Kerry, Bilsker, Martin, Sharma, Khema, Reyes, Eliana, Cooley, Anne, Michon, Sara-Claude, Steele, Julie, Karam, Chafic Karam, Chopra, Manisha, Bird, Shawn, Kaufman, Jacob, Gallatti, Nichole, Vu, Tuan, Katzin, Lara, McClain, Terry, Harvey, Brittany, Hart, Adam, Huynh, Kristin, Beydoun, Said, Chilingaryan, Amaiak, Droker, Brian, Lin, Frank, Shah, Akshay, Tran, Anh, Akhter, Salma, Malekniazi, Ali, Tandan, Rup, Hehir, Michael, Waheed, Waqar, Lucy, Shannon, Weiss, Michael, Distad, Jane, Downing, Sharon, Strom, Susan, Lisak, Robert, Bernitsas, Evanthia, Khan, Omar, Kumar Sriwastava, Shitiz, Tselis, Alexandros, Jia, Kelly, Bertorini, Tulio, Arnold, Thomas, Henderson, Kendrick, Pillai, Rekha, Liu, Ye, Wheeler, Lauren, Hewlett, Jasmine, Vanderhook, Mollie, Dicapua, Daniel, Keung, Benison, Kumar, Aditya, Patwa, Huned, Robeson, Kimberly, Nye, Joan, Vu, Hong, Howard, James F, Jr, Utsugisawa, Kimiaki, Benatar, Michael, Murai, Hiroyuki, Barohn, Richard J, Illa, Isabel, Jacob, Saiju, Vissing, John, Burns, Ted M, Kissel, John T, Muppidi, Srikanth, Nowak, Richard J, O'Brien, Fanny, Wang, Jing-Jing, and Mantegazza, Renato

Published
2017
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38. Long-term safety, tolerability, and efficacy of efgartigimod (ADAPT+): interim results from a phase 3 open-label extension study in participants with generalized myasthenia gravis.

Author

Howard Jr., James F., Bril, Vera, Tuan Vu, Karam, Chafic, Peric, Stojan, De Bleecker, Jan L., Hiroyuki Murai, Meisel, Andreas, Beydoun, Said R., Pasnoor, Mamatha, Guglietta, Antonio, Van Hoorick, Benjamin, Steeland, Sophie, T'joen, Caroline, Kimiaki Utsugisawa, Verschuuren, Jan, and Mantegazza, Renato

Subjects
MYASTHENIA gravis, INTRAVENOUS therapy, MUSCLE weakness, FC receptors, IMMUNOGLOBULIN G
Abstract

Objective: ADAPT+ assessed the long-term safety, tolerability, and efficacy of efgartigimod in adult participants with generalized myasthenia gravis (gMG). Methods: ADAPT+ was an open-label, single-arm, multicenter, up to 3-year extension of the pivotal phase 3 ADAPT study. Efgartigimod was administered in treatment cycles of 4 intravenous infusions (one 10 mg/kg infusion per week). Initiation of subsequent treatment cycles was individualized based on clinical evaluation. Safety endpoints included incidence and severity of adverse events. Efficacy endpoints assessed disease severity using Myasthenia Gravis-Activities of Daily Living (MG-ADL) and Quantitative Myasthenia Gravis (QMG) scores. Results: As of January 2022, 151 participants had rolled over to ADAPT+ and 145 had received ≥1 dose of efgartigimod, of whom, 111 (76.6%) were AChR-Ab+ and 34 (23.4%) were AChR-Ab-. Mean study duration (treatment plus follow-up) was 548 days, and participants received up to 17 treatment cycles, corresponding to 217.6 participant-years of exposure. In the overall population, 123 (84.8%) participants reported ≥1 treatment-emergent adverse event; most frequent were headache (36 [24.8%]), COVID-19 (22 [15.2%]), and nasopharyngitis (20 [13.8%]). Clinically meaningful improvement (CMI) in mean MG-ADL and QMG scores was seen as early as 1 week following the first infusion across multiple cycles in AChR-Ab+ and AChR-Ab-participants. Maximal MG-ADL and QMG improvements aligned with onset and magnitude of total IgG and AChR-Ab reductions. For AChR-Ab+ participants at any time point in each of the first 10 treatment cycles, more than 90% had a maximum reduction of ≥2 points (CMI) in MG-ADL total score; across the 7 cycles in which QMG was measured, 69.4% to 91.3% of participants demonstrated a maximum reduction of ≥3 points (CMI) in QMG total score. Many participants demonstrated improvements well beyond CMI thresholds. In AChR-Ab+ participants with ≥1 year of combined follow-up between ADAPT and ADAPT+, mean number of annualized cycles was 4.7 per year (median [range] 5.0 [0.5-7.6]). Conclusion: Results of ADAPT+ corroborate the substantial clinical improvements seen with efgartigimod in ADAPT and support its long-term safety, tolerability, and efficacy, as well as an individualized dosing regimen for treatment of gMG. [ABSTRACT FROM AUTHOR]

Published
2024
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40. Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES

Author

De Ridder, Willem, Nelson, Isabelle, Asselbergh, Bob, De Paepe, Boel, Beuvin, Maud, Ben Yaou, Rabah, Masson, Cécile, Boland, Anne, Deleuze, Jean-François, Maisonobe, Thierry, Eymard, Bruno, Symoens, Sofie, Schindler, Roland, Brand, Thomas, Johnson, Katherine, Töpf, Ana, Straub, Volker, De Jonghe, Peter, De Bleecker, Jan L., Bonne, Gisèle, and Baets, Jonathan

Published
2019
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44. Genome-wide imputation identifies novel associations and localises signals in idiopathic inflammatory myopathies

Author

Rothwell, Simon, Amos, Christopher I, Miller, Frederick W, Rider, Lisa G, Lundberg, Ingrid E, Gregersen, Peter K, Vencovsky, Jiri, McHugh, Neil, Limaye, Vidya, Selva-O'Callaghan, Albert, Hanna, Michael G, Machado, Pedro M, Pachman, Lauren M, Reed, Ann M, Molberg, Øyvind, Benveniste, Olivier, Mathiesen, Pernille, Radstake, Timothy, Doria, Andrea, De Bleecker, Jan L, De Paepe, Boel, Maurer, Britta, Ollier, William E, Padyukov, Leonid, O'Hanlon, Terrance P, Lee, Annette, Wedderburn, Lucy R, Chinoy, Hector, and Lamb, Janine A

Subjects
610 Medicine & health
Abstract

OBJECTIVES The idiopathic inflammatory myopathies (IIM) are heterogeneous diseases, thought to be initiated by immune activation in genetically predisposed individuals. In this study we imputed variants from the Immunochip array using a large reference panel to fine-map associations and identify novel associations in IIM. METHODS We analysed 2,565 Caucasian IIM samples collected through the Myositis Genetics Consortium (MYOGEN) and 10,260 ethnically-matched controls. We imputed 1,648,116 variants from the Immunochip array using the Haplotype Reference Consortium panel and conducted association analysis on IIM, and clinical and serological subgroups. RESULTS The human leukocyte antigen (HLA) locus was consistently the most significantly associated region. Four non-HLA regions reached genome-wide significance, three in the whole IIM cohort (SDK2 and LINC00924 - both novel, and STAT4), with evidence of independent variants in STAT4, and NAB1 in the polymyositis (PM) subgroup. We also found suggestive evidence of association with loci previously associated with other autoimmune rheumatic diseases (TEC and LTBR). We identified more significant associations than those previously reported in IIM, for STAT4 and DGKQ in the total cohort, for NAB1 and FAM167A-BLK loci in PM, and CCR5 in inclusion body myositis. We found enrichment of variants among DNase I hypersensitivity sites and histone marks associated with active transcription within blood cells. CONCLUSIONS We report novel and strong associations in IIM and PM, and localise signals to single genes and immune cell types. This article is protected by copyright. All rights reserved.

Published
2023
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46. Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

Author

Coarelli, Giulia, Schule, Rebecca, van de Warrenburg, Bart P.C., De Jonghe, Peter, Ewenczyk, Claire, Martinuzzi, Andrea, Synofzik, Matthis, Hamer, Elisa G., Baets, Jonathan, Anheim, Mathieu, Schöls, Ludger, Deconinck, Tine, Masrori, Pegah, Fontaine, Bertrand, Klockgether, Thomas, DʼAngelo, Maria Grazia, Monin, Marie-Lorraine, De Bleecker, Jan, Migeotte, Isabelle, Charles, Perrine, Bassi, Maria Teresa, Klopstock, Thomas, Mochel, Fanny, Ollagnon-Roman, Elisabeth, DʼHooghe, Marc, Kamm, Christoph, Kurzwelly, Delia, Papin, Melanie, Davoine, Claire-Sophie, Banneau, Guillaume, Tezenas du Montcel, Sophie, Seilhean, Danielle, Brice, Alexis, Duyckaerts, Charles, Stevanin, Giovanni, and Durr, Alexandra

Published
2019
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47. A retrospective survey of patients with hereditary transthyretin-mediated (hATTR) amyloidosis treated with patisiran in real-world clinical practice in Belgium.

Author

De Bleecker, Jan L, Claeys, Kristl G, Delstanche, Stéphanie, Van Parys, Vinciane, Baets, Jonathan, Tilleux, Sebastien, Remiche, Gauthier, De Bleecker, Jan L, Claeys, Kristl G, Delstanche, Stéphanie, Van Parys, Vinciane, Baets, Jonathan, Tilleux, Sebastien, and Remiche, Gauthier

Abstract

Hereditary transthyretin-mediated (hATTR) amyloidosis, a genetic disease caused by mutations in the transthyretin gene, leads to progressive sensory and autonomic neuropathy and/or cardiomyopathy and is associated with renal and ophthalmologic manifestations and a poor prognosis., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2023

48. Patients carrying the mutation p.R406W in MAPT present with non-conforming phenotypic spectrum

Author

Gossye, Helena, Van Mossevelde, Sara, Sieben, Anne, Bjerke, M., Hendrickx Van De Craen, Elisabeth, Van Der Zee, Julie, De Deyn, Peter Paul, De Bleecker, Jan, Versijpt, Jan, van den Ende, Jenneke, Deryck, Olivier, Bourgeois, Paul, Bier, Jean Christophe, Goethals, Maarten, Vandenberghe, Rik, Engelborghs, Sebastiaan, Van Broeckhoven, Christine, Gossye, Helena, Van Mossevelde, Sara, Sieben, Anne, Bjerke, M., Hendrickx Van De Craen, Elisabeth, Van Der Zee, Julie, De Deyn, Peter Paul, De Bleecker, Jan, Versijpt, Jan, van den Ende, Jenneke, Deryck, Olivier, Bourgeois, Paul, Bier, Jean Christophe, Goethals, Maarten, Vandenberghe, Rik, Engelborghs, Sebastiaan, and Van Broeckhoven, Christine

Abstract

The missense mutation p.R406W in microtubule-associated protein tau leads to frontotemporal lobar degeneration with an amnestic, Alzheimer's disease-like phenotype with an autosomal dominant pattern of inheritance. In 2003, we described the pedigree of a Belgian family, labelled ADG, with 28 p.R406W patients. Over 18 years follow-up, we extended the family with 10 p.R406W carriers and provided an in-depth clinical description of the patients. Additionally, genetic screening was used to identify p.R406W carriers in Belgian cohorts of frontotemporal dementia and Alzheimer's disease patients and to calculate p.R406W frequency. In the frontotemporal dementia cohort, we found four p.R406W carriers (n = 647, 0.62%) and three in the Alzheimer's disease cohort (n = 1134, 0.26%). Haplotype sharing analysis showed evidence of a shared haplotype suggesting that they are descendants of a common ancestor. Of the p.R406W patients, we describe characteristics of neuropsychological, imaging and fluid biomarkers as well as neuropathologic examination. Intriguingly, the phenotypic spectrum among the p.R406W patients ranged from typical behavioural variant frontotemporal dementia to clinical Alzheimer's disease, based on CSF biomarker analysis and amyloid PET scan. Heterogeneous overlap syndromes existed in between, with highly common neuropsychiatric symptoms like disinhibition and aggressiveness, which occurred in 100% of frontotemporal dementia and 58% of clinical Alzheimer's disease patients. This was also the case for memory problems, 89% in frontotemporal dementia and 100% in clinical Alzheimer's disease patients. Median age at death was significantly lower in patients with frontotemporal dementia (68 years) compared to clinical Alzheimer's disease patients (79 years), although the sizes of the sub-cohorts are limited and do not allow prognostic predictions. Post-mortem brain analysis of one p.R406W patient with behavioural variant frontotemporal dementia revealed frontotemporal, SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2023

49. Effect of efgartigimod on muscle group subdomains in participants with generalized myasthenia gravis: post hoc analyses of the phase 3 pivotal ADAPT study.

Author

Bril, Vera, Howard, James F., Karam, Chafic, De Bleecker, Jan L., Murai, Hiroyuki, Utsugisawa, Kimiaki, Ulrichts, Peter, Brauer, Edward, Zhao, Sihui, Mantegazza, Renato, and Vu, Tuan

Subjects
MYASTHENIA gravis, FC receptors, MUSCLE weakness, NEUROMUSCULAR diseases, IMMUNOGLOBULIN G, RESPIRATORY muscles
Abstract

Background and purpose: Generalized myasthenia gravis (gMG) is a rare, chronic, neuromuscular autoimmune disease mediated by pathogenic immunoglobulin G (IgG) autoantibodies. Patients with gMG experience debilitating muscle weakness, resulting in impaired mobility, speech, swallowing, vision and respiratory function. Efgartigimod is a human IgG1 antibody Fc fragment engineered for increased binding affinity to neonatal Fc receptor. The neonatal Fc receptor blockade by efgartigimod competitively inhibits endogenous IgG binding, leading to decreased IgG recycling and increased degradation resulting in lower IgG concentration. Methods: The safety and efficacy of efgartigimod were evaluated in the ADAPT study. Key efficacy outcome measures included Myasthenia Gravis Activities of Daily Living (MG‐ADL) and Quantitative Myasthenia Gravis (QMG) scores. Efgartigimod demonstrated significant improvement in both the MG‐ADL and QMG scores. This post hoc analysis aimed to determine whether all subdomains of MG‐ADL and QMG improved with efgartigimod treatment. Individual items of MG‐ADL and QMG were grouped into four subdomains: bulbar, ocular, limb/gross motor and respiratory. Change from baseline over 10 weeks in each subdomain was calculated for each group. Results: Greater improvements from baseline were seen across MG‐ADL subdomains in participants treated with efgartigimod compared with placebo. These improvements were typically observed 1 to 2 weeks after the first infusion and correlated with reductions in IgG. Similar results were observed across most QMG subdomains. Conclusions: These post hoc analyses of MG‐ADL and QMG subdomain data from ADAPT suggest that efgartigimod is beneficial in improving muscle function and strength across all muscle groups, leading to the observed efficacy in participants with gMG. [ABSTRACT FROM AUTHOR]

Published
2024
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50. Anoctamin-5 related muscle disease: Clinical and genetic findings in a large European cohort

Author

de Bruyn, Alexander, primary, Montagnese, Federica, additional, Holm-Yildiz, Sonja, additional, Poulsen, Nanna Scharff, additional, Stojkovic, Tanya, additional, Behin, Anthony, additional, Palmio, Johanna, additional, Jokela, Manu, additional, De Bleecker, Jan L, additional, de Visser, Marianne, additional, van der Kooi, Anneke J, additional, ten Dam, Leroy, additional, Domínguez González, Cristina, additional, Maggi, Lorenzo, additional, Gallone, Annamaria, additional, Kostera-Pruszczyk, Anna, additional, Macias, Anna, additional, Łusakowska, Anna, additional, Nedkova, Velina, additional, Olive, Montse, additional, Álvarez-Velasco, Rodrigo, additional, Wanschitz, Julia, additional, Paradas, Carmen, additional, Mavillard, Fabiola, additional, Querin, Giorgia, additional, Fernández-Eulate, Gorka, additional, Quinlivan, Ros, additional, Walter, Maggie C, additional, Depuydt, Christophe E, additional, Udd, Bjarne, additional, Vissing, John, additional, Schoser, Benedikt, additional, and Claeys, Kristl G, additional

Published
2023
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