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505 results on '"Bremond-Gignac D."'

9. Protocole national de diagnostic et de soins (PNDS) de l’aniridie congénitale : synthèse pour le médecin traitant

Author

Bremond-Gignac, Dominique, Borderie, Vincent, Bourges, Jean-Louis, Calvas, Patrick, Chiambaretta, Frédéric, Copin, Henri, Daien, Vincent, Labbé, Antoine, Le Bail, Béatrice, Mortemousque, Bruno, Robert, Matthieu, Rozet, Jean-Michel, Sauer, Arnaud, Valleix, Sophie, Aberdam, Daniel, Abitbol, Marc, Aidan, Nathalie, Audo, Isabelle, Bahi-Buisson, Nadia, Barbieri, Emmanuelle, Basille, Fernand, Bouet, Aurélie, Bruere, Lénaïc, Bursztyn, Joseph, Cochener-Lamard, Béatrice, Daruich-Matet, Alejandra, Denis, Danièle, Denis, Philippe, De Vergnes, Nathalie, El Maftouhi, Adil, Forbeaux Glize, Audrey, Gabison, Eric, Grundeler, Jean Philippe, Hoffart, Louis, Igla, Sophie, Jouanjan, Gaëlle, Laumonier Demory, Elsa, Leroy, Camille, Le Meur, Guylène, Mincheva, Zoia, Plat, Elisabeth, Rigal-Sastourne, Charlotte, Romana, Serge, Rousseau, Antoine, Salomon, Rémi, Steffann, Julie, Touitou, Valérie, Verloes, Alain, Bremond-Gignac, D., Robert, M., Daruich, A., Borderie, V., Chiambaretta, F., and Valleix, S.

Published
2022
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26. Management of ocular involvement in the acute phase of Stevens-Johnson syndrome and toxic epidermal necrolysis: french national audit of practices, literature review, and consensus agreement

Author

Thorel, D., Ingen-Housz-Oro, S., Royer, G., Delcampe, A., Bellon, N., Bodemer, C., Welfringer-Morin, A., Bremond-Gignac, D., Robert, M. P., Tauber, M., Malecaze, F., Dereure, O., Daien, V., Colin, A., Bernier, C., Couret, C., Vabres, B., Tetart, F., Milpied, B., Cornut, T., Ben Said, B., Burillon, C., Cordel, N., Beral, L., de Prost, N., Wolkenstein, P., Muraine, M., and Gueudry, J.

Published
2020
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28. Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study (Neurology and Therapy, (2023), 12, 2, (543-557), 10.1007/s40120-023-00444-1)

Author

Chiriboga, C. A., Bruno, C., Duong, T., Fischer, D., Mercuri, Eugenio Maria, Kirschner, J., Kostera-Pruszczyk, A., Jaber, B., Gorni, K., Kletzl, H., Carruthers, I., Martin, Craig, Warren, F., Scalco, R. S., Wagner, K. R., Muntoni, F., Deconinck, N., Balikova, I., Joniau, I., Tahon, V., Wittevrongel, S., Goemans, N., Cassiman, C., Prove, L., Vancampenhout, L., van den Hauwe, M., Van Impe, A., Cances, C., Soler, V., De La Morandais, L. M., Vovan, D., Cintas, P., Auriol, F., Mus, M., Alphonsa, G., Bellio, V., Gil Mato, O., Flamein, F., Evrard, C., Ziouche, A., Bouacha-Allou, I., Debruyne, P., Derlyn, G., Defoort, S., Leroy, F., Danjoux, L., Desguerre, I., Bremond-Gignac, D., Rateuax, M., Deladriere, E., Vuillerot, C., Veillerot, Q., Sibille-Dabadi, B., Barriere, A., Tinat, M., Saidi, M., Fontaine, S., De Montferrand, C., Le-Goff, L., Portefaix, A., Louvier, U. W., Duval, P. -A., Caradec, P., Touati, S., Herranz, A. Z., Bollig, J., Molnar, F., Vogt, S., Pechmann, A., Schorling, D., Wider, S., Kolbel, H., Schara, U., Braun, F., Gangfuss, A., Hagenacker, T., Eckstein, A., Dekowski, D., Oeverhaus, M., Stoehr, M., Andres, B., Smuda, K., Bertini, Enrico Silvio, D'Amico, A., Petroni, S., Valente, Paola, Bonetti, A. M., Carlesi, A., Mizzoni, I., Pedemonte, M., Brolatti, N., Priolo, E., Rao, G., Sposetti, L., Morando, S., Comi, G., Osnaghi, S., Minorini, V., Abbati, F., Fassini, F., Foa, M., Lopopolo, M. A., Magri, F., Govoni, A., Meneri, M., Parente, V., Antonaci, Laura, Pera, Maria Carmela, Pane, Marika, Amorelli, Giulia Maria, Barresi, C., D'Amico, Guglielmo, Orazi, Lorenzo, Coratti, Giorgia, De Sanctis, Roberto, Vita, G., Sframeli, M., Vita, G. L., Aragona, P., Inferrera, L., Postorino, E. I., Montanini, D., Di Bella, V., Donato, C., Cala, E., Van der Pol, L., Aalbers, J., de Boer, J., Imhof, S., Cooijmans, P., Ruyten, T., Van Der Woude, D., Klimaszewska, B., Romanczak, D., Gierlak-Wojcicka, Z., Kepa, M., Sikorski, A., Sobieraj, M., Lusakowska, A., Kierdaszuk, B., Czeczko, K., Henzi, B., Gugleta, K., Kusnyerik, A., Siems, P., Akos, S., Frei, N., Seppi, C., Haschke, C. W., Guglieri, M., Straub, V., Bell, R., Nassar, M., Page, S., Clarke, M. P., Regan, A., Mayhew, A., Lofra, R. M., Parasuraman, D., Bruschi, Sara, Ghauri, A. -J., Castle, A., Naqvi, S., Patt, N., Scoto, M., Trucco, F., Henderson, R. H., Kukadia, R., Moore, W., Milev, E., Rye, C., Selby, V., Wolfe, A., Darras, B., Baglieri, A. M., Fulton, A., Lucken, C., Maczek, E., Pasternak, A., Kane, S., Bautista, M. E. M., Frommer, E., Pensec, N., Salazar, R., Yochai, C., Rodrigues-Torres, R., Chawla, M., Day, J., Beres, S., Gee, R., Young, S. D., Finkel, R., Nazario, A. N., Fasiuddin, A., Wells, J. A., Wilson, J., Berry, D., Rizzo, V., Duke, J., Monduy, M., Collado, J., Mercuri E. (ORCID:0000-0002-9851-5365), Martin C., Bertini E., Valente P., Antonaci L., Pera M. C. (ORCID:0000-0001-6777-1721), Pane M. (ORCID:0000-0002-4851-6124), Amorelli G. M., D'Amico G., Orazi L., Coratti G. (ORCID:0000-0001-6666-5628), De Sanctis R., Bruschi S., Chiriboga, C. A., Bruno, C., Duong, T., Fischer, D., Mercuri, Eugenio Maria, Kirschner, J., Kostera-Pruszczyk, A., Jaber, B., Gorni, K., Kletzl, H., Carruthers, I., Martin, Craig, Warren, F., Scalco, R. S., Wagner, K. R., Muntoni, F., Deconinck, N., Balikova, I., Joniau, I., Tahon, V., Wittevrongel, S., Goemans, N., Cassiman, C., Prove, L., Vancampenhout, L., van den Hauwe, M., Van Impe, A., Cances, C., Soler, V., De La Morandais, L. M., Vovan, D., Cintas, P., Auriol, F., Mus, M., Alphonsa, G., Bellio, V., Gil Mato, O., Flamein, F., Evrard, C., Ziouche, A., Bouacha-Allou, I., Debruyne, P., Derlyn, G., Defoort, S., Leroy, F., Danjoux, L., Desguerre, I., Bremond-Gignac, D., Rateuax, M., Deladriere, E., Vuillerot, C., Veillerot, Q., Sibille-Dabadi, B., Barriere, A., Tinat, M., Saidi, M., Fontaine, S., De Montferrand, C., Le-Goff, L., Portefaix, A., Louvier, U. W., Duval, P. -A., Caradec, P., Touati, S., Herranz, A. Z., Bollig, J., Molnar, F., Vogt, S., Pechmann, A., Schorling, D., Wider, S., Kolbel, H., Schara, U., Braun, F., Gangfuss, A., Hagenacker, T., Eckstein, A., Dekowski, D., Oeverhaus, M., Stoehr, M., Andres, B., Smuda, K., Bertini, Enrico Silvio, D'Amico, A., Petroni, S., Valente, Paola, Bonetti, A. M., Carlesi, A., Mizzoni, I., Pedemonte, M., Brolatti, N., Priolo, E., Rao, G., Sposetti, L., Morando, S., Comi, G., Osnaghi, S., Minorini, V., Abbati, F., Fassini, F., Foa, M., Lopopolo, M. A., Magri, F., Govoni, A., Meneri, M., Parente, V., Antonaci, Laura, Pera, Maria Carmela, Pane, Marika, Amorelli, Giulia Maria, Barresi, C., D'Amico, Guglielmo, Orazi, Lorenzo, Coratti, Giorgia, De Sanctis, Roberto, Vita, G., Sframeli, M., Vita, G. L., Aragona, P., Inferrera, L., Postorino, E. I., Montanini, D., Di Bella, V., Donato, C., Cala, E., Van der Pol, L., Aalbers, J., de Boer, J., Imhof, S., Cooijmans, P., Ruyten, T., Van Der Woude, D., Klimaszewska, B., Romanczak, D., Gierlak-Wojcicka, Z., Kepa, M., Sikorski, A., Sobieraj, M., Lusakowska, A., Kierdaszuk, B., Czeczko, K., Henzi, B., Gugleta, K., Kusnyerik, A., Siems, P., Akos, S., Frei, N., Seppi, C., Haschke, C. W., Guglieri, M., Straub, V., Bell, R., Nassar, M., Page, S., Clarke, M. P., Regan, A., Mayhew, A., Lofra, R. M., Parasuraman, D., Bruschi, Sara, Ghauri, A. -J., Castle, A., Naqvi, S., Patt, N., Scoto, M., Trucco, F., Henderson, R. H., Kukadia, R., Moore, W., Milev, E., Rye, C., Selby, V., Wolfe, A., Darras, B., Baglieri, A. M., Fulton, A., Lucken, C., Maczek, E., Pasternak, A., Kane, S., Bautista, M. E. M., Frommer, E., Pensec, N., Salazar, R., Yochai, C., Rodrigues-Torres, R., Chawla, M., Day, J., Beres, S., Gee, R., Young, S. D., Finkel, R., Nazario, A. N., Fasiuddin, A., Wells, J. A., Wilson, J., Berry, D., Rizzo, V., Duke, J., Monduy, M., Collado, J., Mercuri E. (ORCID:0000-0002-9851-5365), Martin C., Bertini E., Valente P., Antonaci L., Pera M. C. (ORCID:0000-0001-6777-1721), Pane M. (ORCID:0000-0002-4851-6124), Amorelli G. M., D'Amico G., Orazi L., Coratti G. (ORCID:0000-0001-6666-5628), De Sanctis R., and Bruschi S.

Abstract

In this article the JEWELFISH Study Group members were missing in the Acknowledgements. The collaborator names are corrected in the supplementary material and the complete list is given below. In Table 1, footnote symbol ‘g’ was incorrectly written as ‘f’ in the entries Non-sitters—2 (14)g and Sitters-12 (86)g under column Onasemnogene abeparvovec of section Motor function, n (%)f. The original article has been corrected.

Published
2023

30. A 3-day regimen with azithromycin 1.5% eyedrops for the treatment of purulent bacterial conjunctivitis in children: efficacy on clinical signs and impact on the burden of illness

Author

Bremond-Gignac D, Messaoud R, Lazreg S, Speeg-Schatz C, Renault D, and Chiambaretta F

Subjects
Ophthalmology, RE1-994
Abstract

Dominique Bremond-Gignac,1,2 Riadh Messaoud,3 Sihem Lazreg,4 Claude Speeg-Schatz,5 Didier Renault,6 Frédéric Chiambaretta7,8 On behalf of the Azithromycin Pediatric Study Group 1Ophthalmology Department, Centre St Victor, University Hospital of Amiens, Picardie Jules Verne University, Amiens, France; 2CNRS FR3636, Paris V University, France; 3Ophthalmology Department, Tahar Sfar University Hospital, Mahdia, Tunisia; 4Dar El Beida, Blida, Algeria; 5Ophthalmology Department, University Hospital of Strasbourg, Strasbourg, France; 6Laboratoires THÉA, Clermont-Ferrand, France; 7Ophthalmology Department, University Hospital of Clermont-Ferrand, Gabriel Montpied Hospital, Clermont-Ferrand, France; 8EA 7281 R2D2, Auvergne University, Clermont-Ferrand, France Purpose: To compare the efficacy of azithromycin 1.5% versus tobramycin 0.3% eyedrops on clinical ocular signs and symptoms of bacterial conjunctivitis in children and to assess the parents’ satisfaction regarding the dosing regimen.Patients and methods: An international, multicenter, randomized, investigator-masked, controlled clinical trial conducted in children (1 day to 18 years old) with bulbar conjunctival hyperemia and purulent discharge. Azithromycin 1.5% was administered as 1 drop twice daily for 3 days, and tobramycin 0.3% as 1 drop every 2 hours for 2 days, then 4 times daily for 5 days.Results: A total of 286 patients (mean age: 3.2 years) were enrolled. In children with bacteriologically positive cultures (N=203), azithromycin produced a significantly greater improvement in conjunctival discharge (P

Published
2015

36. Nécrolyses épidermiques de l’enfant : comparaison des formes idiopathiques et médicamenteuses

Author

Welfringer-Morin, A., primary, Bataille, P., additional, Drummond, D., additional, Bellon, N., additional, Oro, S., additional, Bonigen, J., additional, Schmartz, S., additional, Giraud-Kerleroux, L., additional, Moulin, F., additional, De Saint Blanquat, L., additional, Bremond-Gignac, D., additional, Hadj-Rabia, S., additional, and Bodemer, C., additional

Published
2022
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39. Ojo y embarazo

Author

Brémond-Gignac, D., Copin, H., Goubet-Cabry, R., Merviel, P., Luton, D., and Milazzo, S.

Published
2012
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41. Artificial intelligence extension of the OSCAR-IB criteria

Author

Petzold, A., Albrecht, P., Balcer, L., Bekkers, E., Brandt, A. U., Calabresi, P. A., Deborah, O. G., Graves, J. S., Green, A., Keane, P. A., Nij Bijvank, J. A., Sander, J. W., Paul, F., Saidha, S., Villoslada, P., Wagner, S. K., Yeh, E. A., Aktas, O., Antel, J., Asgari, N., Audo, I., Avasarala, J., Avril, D., Bagnato, F. R., Banwell, B., Bar-Or, A., Behbehani, R., Manterola, A. B., Bennett, J., Benson, L., Bernard, J., Bremond-Gignac, D., Britze, J., Burton, J., Calkwood, J., Carroll, W., Chandratheva, A., Cohen, J., Comi, G., Cordano, C., Costa, S., Costello, F., Courtney, A., Cruz-Herranz, A., Cutter, G., Crabb, D., Delott, L., De Seze, J., Diem, R., Dollfuss, H., El Ayoubi, N. K., Fasser, C., Finke, C., Fischer, D., Fitzgerald, K., Fonseca, P., Frederiksen, J. L., Frohman, E., Frohman, T., Fujihara, K., Cuellar, I. G., Galetta, S., Garcia-Martin, E., Giovannoni, G., Glebauskiene, B., Suarez, I. G., Jensen, G. P., Hamann, S., Hartung, H. -P., Havla, J., Hemmer, B., Huang, S. -C., Imitola, J., Jasinskas, V., Jiang, H., Kafieh, R., Kappos, L., Kardon, R., Keegan, D., Kildebeck, E., Kim, U. S., Klistorner, S., Knier, B., Kolbe, S., Korn, T., Krupp, L., Lagreze, W., Leocani, L., Levin, N., Liskova, P., Preiningerova, J. L., Lorenz, B., May, E., Miller, D., Mikolajczak, J., Said, S. M., Montalban, X., Morrow, M., Mowry, E., Murta, J., Navas, C., Nolan, R., Nowomiejska, K., Oertel, F. C., Oh, J., Oreja-Guevara, C., Orssaud, C., Osborne, B., Outteryck, O., Paiva, C., Palace, J., Papadopoulou, A., Patsopoulos, N., Pontikos, N., Preising, M., Prince, J., Reich, D., Rejdak, R., Ringelstein, M., Rodriguez de Antonio, L., Sahel, J. -A., Sanchez-Dalmau, B., Sastre-Garriga, J., Schippling, S., Schuman, J., Shindler, K., Shin, R., Shuey, N., Soelberg, K., Specovius, S., Suppiej, A., Thompson, A., Toosy, A., Torres, R., Touitou, V., Trauzettel-Klosinski, S., van der Walt, A., Vermersch, P., Vidal-Jordana, A., Waldman, A. T., Waters, C., Wheeler, R., White, O., Wilhelm, H., Winges, K. M., Wiegerinck, N., Wiehe, L., Wisnewski, T., Wong, S., Wurfel, J., Yaghi, S., You, Y., Yu, Z., Yu-Wai-Man, P., Zemaitien≐, R., Zimmermann, H., Albrecht P., Petzold A., Balcer, L., Bekkers, E., Brandt, A. U., Calabresi, P. A., Deborah, O. G., Graves, J. S., Green, A., Keane, P. A., Nij Bijvank, J. A., Sander, J. W., Paul, F., Saidha, S., Villoslada, P., Wagner, S. K., Yeh, E. A., Aktas, O., Antel, J., Asgari, N., Audo, I., Avasarala, J., Avril, D., Bagnato, F. R., Banwell, B., Bar-Or, A., Behbehani, R., Manterola, A. B., Bennett, J., Benson, L., Bernard, J., Bremond-Gignac, D., Britze, J., Burton, J., Calkwood, J., Carroll, W., Chandratheva, A., Cohen, J., Comi, G., Cordano, C., Costa, S., Costello, F., Courtney, A., Cruz-Herranz, A., Cutter, G., Crabb, D., Delott, L., De Seze, J., Diem, R., Dollfuss, H., El Ayoubi, N. K., Fasser, C., Finke, C., Fischer, D., Fitzgerald, K., Fonseca, P., Frederiksen, J. L., Frohman, E., Frohman, T., Fujihara, K., Cuellar, I. G., Galetta, S., Garcia-Martin, E., Giovannoni, G., Glebauskiene, B., Suarez, I. G., P. , Jensen, G., Hamann, S., Hartung, H. -P., Havla, J., Hemmer, B., Huang, S. -C., Imitola, J., Jasinskas, V., Jiang, H., Kafieh, R., Kappos, L., Kardon, R., Keegan, D., Kildebeck, E., Kim, U. S., Klistorner, S., Knier, B., Kolbe, S., Korn, T., Krupp, L., Lagreze, W., Leocani, L., Levin, N., Liskova, P., Preiningerova, J. L., Lorenz, B., May, E., Miller, D., Mikolajczak, J., Said, S. M., Montalban, X., Morrow, M., Mowry, E., Murta, J., Navas, C., Nolan, R., Nowomiejska, K., Oertel, F. C., Oh, J., Oreja-Guevara, C., Orssaud, C., Osborne, B., Outteryck, O., Paiva, C., Palace, J., Papadopoulou, A., Patsopoulos, N., Pontikos, N., Preising, M., Prince, J., Reich, D., Rejdak, R., Ringelstein, M., Rodriguez de Antonio, L., Sahel, J. -A., Sanchez-Dalmau, B., Sastre-Garriga, J., Schippling, S., Schuman, J., Shindler, K., Shin, R., Shuey, N., Soelberg, K., Specovius, S., Suppiej, A., Thompson, A., Toosy, A., Torres, R., Touitou, V., Trauzettel-Klosinski, S., van der Walt, A., Vermersch, P., Vidal-Jordana, A., Waldman, A. T., Waters, C., Wheeler, R., White, O., Wilhelm, H., Winges, K. M., Wiegerinck, N., Wiehe, L., Wisnewski, T., Wong, S., Wurfel, J., Yaghi, S., You, Y., Yu, Z., Yu-Wai-Man, P., Zemaitien≐, R., and Zimmermann, H.

Subjects
0301 basic medicine, Big Data, medicine.medical_specialty, Neurology, media_common.quotation_subject, Big data, MEDLINE, Reviews, Socio-culturale, Neurosciences. Biological psychiatry. Neuropsychiatry, Review, Public domain, Retina, Cohort Studies, 03 medical and health sciences, Annotation, 0302 clinical medicine, Artificial Intelligence, medicine, Humans, Quality (business), RC346-429, Tomography, media_common, Image pattern recognition, business.industry, General Neuroscience, Nervous System Diseases, Tomography, Optical Coherence, Algorithms, 030104 developmental biology, Optical Coherence, Imaging technology, RC0321, Neurology. Diseases of the nervous system, Neurology (clinical), Artificial intelligence, sense organs, business, 030217 neurology & neurosurgery, RC321-571
Abstract

Artificial intelligence (AI)‐based diagnostic algorithms have achieved ambitious aims through automated image pattern recognition. For neurological disorders, this includes neurodegeneration and inflammation. Scalable imaging technology for big data in neurology is optical coherence tomography (OCT). We highlight that OCT changes observed in the retina, as a window to the brain, are small, requiring rigorous quality control pipelines. There are existing tools for this purpose. Firstly, there are human‐led validated consensus quality control criteria (OSCAR‐IB) for OCT. Secondly, these criteria are embedded into OCT reporting guidelines (APOSTEL). The use of the described annotation of failed OCT scans advances machine learning. This is illustrated through the present review of the advantages and disadvantages of AI‐based applications to OCT data. The neurological conditions reviewed here for the use of big data include Alzheimer disease, stroke, multiple sclerosis (MS), Parkinson disease, and epilepsy. It is noted that while big data is relevant for AI, ownership is complex. For this reason, we also reached out to involve representatives from patient organizations and the public domain in addition to clinical and research centers. The evidence reviewed can be grouped in a five‐point expansion of the OSCAR‐IB criteria to embrace AI (OSCAR‐AI). The review concludes by specific recommendations on how this can be achieved practically and in compliance with existing guidelines.

Published
2021
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42. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial

Author

Mercuri, Eugenio Maria, Deconinck, N., Mazzone, Elena Stacy, Nascimento, A., Oskoui, M., Saito, K., Vuillerot, C., Baranello, Giovanni, Boespflug-Tanguy, O., Goemans, N., Kirschner, J., Kostera-Pruszczyk, A., Servais, L., Gerber, M., Gorni, K., Khwaja, O., Kletzl, H., Scalco, R. S., Staunton, H., Yeung, W. Y., Martin, Craig, Fontoura, P., Day, J. W., Volpe, J. J., Posner, J., Kellner, U., Quinlivan, R., Fuerst-Recktenwald, S., Marquet, A., Mulhardt, N., Trundell, D., Daron, A., Delstanche, S., Romain, B., Dal Farra, F., Schneider, O., Balikova, I., Delbeke, P., Joniau, I., Tahon, V., Wittevrongel, S., De Vos, E., Casteels, I., De Waele, L., Cassiman, C., Prove, L., Kinoo, D., Vancampenhout, L., Van Den Hauwe, M., Van Impe, A., Prufer de Queiroz Campos Araujo, A., Chacon Pereira, A., Nardes, F., Haefeli, L., Rossetto, J., Almeida Pereira, J., Ferreira Rebel, M., Campbell, C., Sharan, S., Mcdonald, W., Scholtes, C., Mah, J., Sframeli, M., Chiu, A., Hagel, J., Beneish, R., Pham, C., Toffoli, D., Arpin, S., Turgeon Desilets, S., Wang, Y., Hu, C., Huang, J., Qian, C., Shen, L., Xiao, Y., Zhou, Z., Li, H., Wang, S., Xiong, H., Chang, X., Dong, H., Liu, Y., Sang, T., Wei, C., Wen, J., Cao, Y., Lv, X., Zhao, J., Li, W., Qin, L., Barisic, N., Galiot Delic, M., Ivkic, P. K., Vukojevic, N., Kern, I., Najdanovic, B., Skugor, M., Gidaro, T., Seferian, A., De Lucia, Sara Sofia, Barreau, E., Mnafek, N., Momtchilova, M. M., Peche, H., Valherie, C., Grange, A., Lilien, C., Milascevic, D., Tachibana, S., Ravelli, C., Cardas, R., Vanden Brande, L., Davion, J. -B., Coopman, S., Bouacha, I., Debruyne, P., Defoort, S., Derlyn, G., Leroy, F., Danjoux, L., Guilbaud, J., Desguerre, I., Barnerias, C., Semeraro, M., Bremond-Gignac, D., Bruere, L., Rateaux, M., Deladriere, E., Germa, V., Pereon, Y., Magot, A., Mercie, S., Billaud, F., Le Goff, L., Letellier, G., Portefaix, A., Fontaine, S., De-Montferrand, C., Le-Goff, L., Saidi, M., Bouzid, N., Barriere, A., Tinat, M., Dreesbach, M., Lagreze, W., Michaelis, B., Molnar, F., Seger, D., Vogt, S., Bertini, Enrico Silvio, D'Amico, Adele, Petroni, S., Bonetti, A. M., Carlesi, A., Mizzoni, I., Bruno, C., Priolo, E., Rao, G., Morando, S., Tacchetti, P., Zuffi, A., Comi, G. P., Brusa, R., Corti, Serafino, Daniele, V., Govoni, A., Magri, F., Minorini, V., Osnaghi, S. G., Abbati, F., Fassini, F., Foa, M., Lopopolo, A., Meneri, M., Zoppas, F., Parente, V., Masson, R., Bianchi Marzoli, Stefania, Santarsiero, Rocco Domenico, Garcia Sierra, M., Tremolada, G., Arnoldi, M. T., Vigano, M., Zanin, Renata, Amorelli, Giulia Maria, Barresi, C., D'Amico, Guglielmo, Orazi, Lorenzo, Coratti, Giorgia, Haginoya, K., Kato, A., Morishita, Y., Kira, R., Akiyama, K., Goto, M., Mori, Y., Okamoto, M., Tsutsui, S., Takatsuji, Y., Tanaka, A., Komaki, H., Suzuki, I., Takeuchi, M., Todoroki, D., Watanabe, S., Omori, M., Matsubayashi, T., Inakazu, E., Nagura, H., Suzuki, A., Osaka, H., Ohashi, M., Ishikawa, N., Harada, Y., Fudeyasu, K., Hirata, K., Michiue, K., Ueda, K., Yashiro, S., Seki, M., Sano, N., Uemura, A., Fukuyama, K., Matsumoto, Y., Miyazaki, H., Shibata, M., Kobayashi, K., Nakamura, Y., Takeshima, Y., Kuma, M., Fraczek, A., Jedrzejowska, M., Lusakowska, A., Czeszyk-Piotrowicz, A., Hautz, W., Rakusiewicz, K., Burlewicz, M., Gierlak-Wojcicka, Z., Kepa, M., Sikorski, A., Sobieraj, M., Mazurkiewicz-Beldzinska, M., Lemska, A., Modrzejewska, S., Koberda, M., Stodolska-Koberda, U., Waskowska, A., Kolendo, J., Sobierajska-Rek, A., Steinborn, B., Dalz, M., Grabowska, J., Hajduk, W., Janasiewicz-Karachitos, J., Klimas, M., Stopa, M., Gajewska, E., Pusz, B., Vlodavets, D., Melnik, E., Leppenen, N., Yupatova, N., Monakhova, A., Papina, Y., Shidlovsckaia, O., Milic Rasic, V., Brankovic, V., Kosac, A., Djokic, O., Jaksic, V., Pepic, A., Martinovic, J., Munell Casadesus, F., Tizzano, E., Martin Begue, N., Wolley Dod, C., Subira, O., Planas Pascual, B., Toro Tamargo, E., Madruga Garrido, M., Medina Romero, J. D., Salinas, M. P., Nascimento Osorio, A., Diaz Cortes, A., Jimenez Ganan, E., Suh, S. D., Medina Cantillo, J., Moya, O., Padros, N., Roca Urraca, S., Gonzalez Valdivia, H., Pascual Pascual, S., de Manuel, S., Noval Martin, S., Burnham, P., Espinosa Garcia, S., Martinez Moreno, M., Topaloglu, H., Oncel, I., Eroglu Ertugrul, N., Konuskan, B., Eldem, B., Kadayifcilar, S., Alemdaroglu, I., Ayse Karaduman, A., Tunca Yilmaz, O., Bilgin, N., Sari, S., Chiriboga, C., Kane, S., Lee, J., Rome-Martin, D., Beres, S., Duong, T., Gee, R., Dunaway Young, S., Mercuri E. (ORCID:0000-0002-9851-5365), Mazzone E. S., Baranello G., Martin C., De Lucia S., Bertini E., D'Amico A., Corti S., Bianchi Marzoli S., Santarsiero D., Zanin R., Amorelli G. M., D'Amico G., Orazi L., Coratti G. (ORCID:0000-0001-6666-5628), Mercuri, Eugenio Maria, Deconinck, N., Mazzone, Elena Stacy, Nascimento, A., Oskoui, M., Saito, K., Vuillerot, C., Baranello, Giovanni, Boespflug-Tanguy, O., Goemans, N., Kirschner, J., Kostera-Pruszczyk, A., Servais, L., Gerber, M., Gorni, K., Khwaja, O., Kletzl, H., Scalco, R. S., Staunton, H., Yeung, W. Y., Martin, Craig, Fontoura, P., Day, J. W., Volpe, J. J., Posner, J., Kellner, U., Quinlivan, R., Fuerst-Recktenwald, S., Marquet, A., Mulhardt, N., Trundell, D., Daron, A., Delstanche, S., Romain, B., Dal Farra, F., Schneider, O., Balikova, I., Delbeke, P., Joniau, I., Tahon, V., Wittevrongel, S., De Vos, E., Casteels, I., De Waele, L., Cassiman, C., Prove, L., Kinoo, D., Vancampenhout, L., Van Den Hauwe, M., Van Impe, A., Prufer de Queiroz Campos Araujo, A., Chacon Pereira, A., Nardes, F., Haefeli, L., Rossetto, J., Almeida Pereira, J., Ferreira Rebel, M., Campbell, C., Sharan, S., Mcdonald, W., Scholtes, C., Mah, J., Sframeli, M., Chiu, A., Hagel, J., Beneish, R., Pham, C., Toffoli, D., Arpin, S., Turgeon Desilets, S., Wang, Y., Hu, C., Huang, J., Qian, C., Shen, L., Xiao, Y., Zhou, Z., Li, H., Wang, S., Xiong, H., Chang, X., Dong, H., Liu, Y., Sang, T., Wei, C., Wen, J., Cao, Y., Lv, X., Zhao, J., Li, W., Qin, L., Barisic, N., Galiot Delic, M., Ivkic, P. K., Vukojevic, N., Kern, I., Najdanovic, B., Skugor, M., Gidaro, T., Seferian, A., De Lucia, Sara Sofia, Barreau, E., Mnafek, N., Momtchilova, M. M., Peche, H., Valherie, C., Grange, A., Lilien, C., Milascevic, D., Tachibana, S., Ravelli, C., Cardas, R., Vanden Brande, L., Davion, J. -B., Coopman, S., Bouacha, I., Debruyne, P., Defoort, S., Derlyn, G., Leroy, F., Danjoux, L., Guilbaud, J., Desguerre, I., Barnerias, C., Semeraro, M., Bremond-Gignac, D., Bruere, L., Rateaux, M., Deladriere, E., Germa, V., Pereon, Y., Magot, A., Mercie, S., Billaud, F., Le Goff, L., Letellier, G., Portefaix, A., Fontaine, S., De-Montferrand, C., Le-Goff, L., Saidi, M., Bouzid, N., Barriere, A., Tinat, M., Dreesbach, M., Lagreze, W., Michaelis, B., Molnar, F., Seger, D., Vogt, S., Bertini, Enrico Silvio, D'Amico, Adele, Petroni, S., Bonetti, A. M., Carlesi, A., Mizzoni, I., Bruno, C., Priolo, E., Rao, G., Morando, S., Tacchetti, P., Zuffi, A., Comi, G. P., Brusa, R., Corti, Serafino, Daniele, V., Govoni, A., Magri, F., Minorini, V., Osnaghi, S. G., Abbati, F., Fassini, F., Foa, M., Lopopolo, A., Meneri, M., Zoppas, F., Parente, V., Masson, R., Bianchi Marzoli, Stefania, Santarsiero, Rocco Domenico, Garcia Sierra, M., Tremolada, G., Arnoldi, M. T., Vigano, M., Zanin, Renata, Amorelli, Giulia Maria, Barresi, C., D'Amico, Guglielmo, Orazi, Lorenzo, Coratti, Giorgia, Haginoya, K., Kato, A., Morishita, Y., Kira, R., Akiyama, K., Goto, M., Mori, Y., Okamoto, M., Tsutsui, S., Takatsuji, Y., Tanaka, A., Komaki, H., Suzuki, I., Takeuchi, M., Todoroki, D., Watanabe, S., Omori, M., Matsubayashi, T., Inakazu, E., Nagura, H., Suzuki, A., Osaka, H., Ohashi, M., Ishikawa, N., Harada, Y., Fudeyasu, K., Hirata, K., Michiue, K., Ueda, K., Yashiro, S., Seki, M., Sano, N., Uemura, A., Fukuyama, K., Matsumoto, Y., Miyazaki, H., Shibata, M., Kobayashi, K., Nakamura, Y., Takeshima, Y., Kuma, M., Fraczek, A., Jedrzejowska, M., Lusakowska, A., Czeszyk-Piotrowicz, A., Hautz, W., Rakusiewicz, K., Burlewicz, M., Gierlak-Wojcicka, Z., Kepa, M., Sikorski, A., Sobieraj, M., Mazurkiewicz-Beldzinska, M., Lemska, A., Modrzejewska, S., Koberda, M., Stodolska-Koberda, U., Waskowska, A., Kolendo, J., Sobierajska-Rek, A., Steinborn, B., Dalz, M., Grabowska, J., Hajduk, W., Janasiewicz-Karachitos, J., Klimas, M., Stopa, M., Gajewska, E., Pusz, B., Vlodavets, D., Melnik, E., Leppenen, N., Yupatova, N., Monakhova, A., Papina, Y., Shidlovsckaia, O., Milic Rasic, V., Brankovic, V., Kosac, A., Djokic, O., Jaksic, V., Pepic, A., Martinovic, J., Munell Casadesus, F., Tizzano, E., Martin Begue, N., Wolley Dod, C., Subira, O., Planas Pascual, B., Toro Tamargo, E., Madruga Garrido, M., Medina Romero, J. D., Salinas, M. P., Nascimento Osorio, A., Diaz Cortes, A., Jimenez Ganan, E., Suh, S. D., Medina Cantillo, J., Moya, O., Padros, N., Roca Urraca, S., Gonzalez Valdivia, H., Pascual Pascual, S., de Manuel, S., Noval Martin, S., Burnham, P., Espinosa Garcia, S., Martinez Moreno, M., Topaloglu, H., Oncel, I., Eroglu Ertugrul, N., Konuskan, B., Eldem, B., Kadayifcilar, S., Alemdaroglu, I., Ayse Karaduman, A., Tunca Yilmaz, O., Bilgin, N., Sari, S., Chiriboga, C., Kane, S., Lee, J., Rome-Martin, D., Beres, S., Duong, T., Gee, R., Dunaway Young, S., Mercuri E. (ORCID:0000-0002-9851-5365), Mazzone E. S., Baranello G., Martin C., De Lucia S., Bertini E., D'Amico A., Corti S., Bianchi Marzoli S., Santarsiero D., Zanin R., Amorelli G. M., D'Amico G., Orazi L., and Coratti G. (ORCID:0000-0001-6666-5628)

Abstract

Background: Risdiplam is an oral small molecule approved for the treatment of patients with spinal muscular atrophy, with approval for use in patients with type 2 and type 3 spinal muscular atrophy granted on the basis of unpublished data. The drug modifies pre-mRNA splicing of the SMN2 gene to increase production of functional SMN. We aimed to investigate the safety and efficacy of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy. Methods: In this phase 3, randomised, double-blind, placebo-controlled study, patients aged 2–25 years with confirmed 5q autosomal recessive type 2 or type 3 spinal muscular atrophy were recruited from 42 hospitals in 14 countries across Europe, North America, South America, and Asia. Participants were eligible if they were non-ambulant, could sit independently, and had a score of at least 2 in entry item A of the Revised Upper Limb Module. Patients were stratified by age and randomly assigned (2:1) to receive either daily oral risdiplam, at a dose of 5·00 mg (for individuals weighing ≥20 kg) or 0·25 mg/kg (for individuals weighing <20 kg), or daily oral placebo (matched to risdiplam in colour and taste). Randomisation was conducted by permutated block randomisation with a computerised system run by an external party. Patients, investigators, and all individuals in direct contact with patients were masked to treatment assignment. The primary endpoint was the change from baseline in the 32-item Motor Function Measure total score at month 12. All individuals who were randomly assigned to risdiplam or placebo, and who did not meet the prespecified missing item criteria for exclusion, were included in the primary efficacy analysis. Individuals who received at least one dose of risdiplam or placebo were included in the safety analysis. SUNFISH is registered with ClinicalTrials.gov, NCT02908685. Recruitment is closed; the study is ongoing. Findings: Between Oct 9, 2017, and Sept 4, 2018, 180 patients were rand

Published
2022

44. The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

Author

Black G. C., Sergouniotis P., Sodi A., Leroy B. P., Van Cauwenbergh C., Liskova P., Gronskov K., Klett A., Kohl S., Taurina G., Sukys M., Haer-Wigman L., Nowomiejska K., Marques J. P., Leroux D., Cremers F. P. M., De Baere E., Dollfus H., Ashworth J., Audo I., Bacci G., Balciuniene V. J., Bargiacchi S., Bertelsen M., Black G., Boon C., Bremond-Gignac D., Buzzonetti L., Calvas P., Thomsen A. C., Chirita-Emandi A., Chokoshvili D., Cremers F., Daly A., Downes S., Fasolo A., Fasser C., Fischer D., Fortunato P., Gelzinis A., Hall G., Hamann S., Heon E., Iarossi G., Iberg C., Jouanjan G., Kaariainen H., Kahn K., Keegan D., Laengsfeld M., Leon A., Leroux B., Lorenz B., Maggi R., Mauring L., Melico P., Meunier I., Mohand-Said S., Monterosso C., Morandi P., Parmeggiani F., Passerini I., Pelletier V., Peluso F., Perdomo Y., Rapizzi E., Roos L., Roosing S., Rozet J. -M., Simonelli F., Sowden J., Stingl K., Suppiej A., Testa F., Tracewska A., Traficante G., Valeina S., Wheeler-Schilling T., Yu-Wai-Man P., Zeitz C., Zemaitiene R., Leroux, Dorothée [0000-0002-1412-6611], Apollo - University of Cambridge Repository, Ophthalmology, ANS - Complex Trait Genetics, Black, G. C., Sergouniotis, P., Sodi, A., Leroy, B. P., Van Cauwenbergh, C., Liskova, P., Gronskov, K., Klett, A., Kohl, S., Taurina, G., Sukys, M., Haer-Wigman, L., Nowomiejska, K., Marques, J. P., Leroux, D., Cremers, F. P. M., De Baere, E., Dollfus, H., Ashworth, J., Audo, I., Bacci, G., Balciuniene, V. J., Bargiacchi, S., Bertelsen, M., Black, G., Boon, C., Bremond-Gignac, D., Buzzonetti, L., Calvas, P., Thomsen, A. C., Chirita-Emandi, A., Chokoshvili, D., Cremers, F., Daly, A., Downes, S., Fasolo, A., Fasser, C., Fischer, D., Fortunato, P., Gelzinis, A., Hall, G., Hamann, S., Heon, E., Iarossi, G., Iberg, C., Jouanjan, G., Kaariainen, H., Kahn, K., Keegan, D., Laengsfeld, M., Leon, A., Leroux, B., Lorenz, B., Maggi, R., Mauring, L., Melico, P., Meunier, I., Mohand-Said, S., Monterosso, C., Morandi, P., Parmeggiani, F., Passerini, I., Pelletier, V., Peluso, F., Perdomo, Y., Rapizzi, E., Roos, L., Roosing, S., Rozet, J. -M., Simonelli, F., Sowden, J., Stingl, K., Suppiej, A., Testa, F., Tracewska, A., Traficante, G., Valeina, S., Wheeler-Schilling, T., Yu-Wai-Man, P., Zeitz, C., and Zemaitiene, R.

Subjects
0301 basic medicine, Eye Diseases, lcsh:Medicine, CHILDREN, Position statement, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], MOLECULAR-GENETICS, 0302 clinical medicine, HISTORY, Health care, Medicine and Health Sciences, Genetics(clinical), Pharmacology (medical), Child, Genetics (clinical), medicine.diagnostic_test, General Medicine, Genomics, Europe, TRIALS, ERN-EYE, Rare eye diseases, medicine.symptom, Genetic and genomic testing, Human, medicine.medical_specialty, Visual impairment, LEBER CONGENITAL AMAUROSIS, Socio-culturale, DIAGNOSIS, 03 medical and health sciences, Rare Diseases, medicine, Humans, Genetic Testing, Intensive care medicine, Genetic testing, business.industry, CLINICAL-FEATURES, lcsh:R, Rare eye disease, Eye Disease, Human genetics, Clinical trial, 030104 developmental biology, Genomic, 030221 ophthalmology & optometry, Personalized medicine, business, Rare disease
Abstract

Background Rare Eye Diseases (RED) are the leading cause of visual impairment and blindness for children and young adults in Europe. This heterogeneous group of conditions includes over 900 disorders ranging from relatively prevalent disorders such as retinitis pigmentosa to very rare entities such as developmental eye anomalies. A significant number of patients with RED have an underlying genetic etiology. One of the aims of the European Reference Network for Rare Eye Diseases (ERN–EYE) is to facilitate improvement in diagnosis of RED in European member states. Main body Technological advances have allowed genetic and genomic testing for RED. The outcome of genetic testing allows better understanding of the condition and allows reproductive and therapeutic options. The increase of the number of clinical trials for RED has provided urgency for genetic testing in RED. A survey of countries participating in ERN-EYE demonstrated that the majority are able to access some forms of genomic testing. However, there is significant variability, particularly regarding testing as part of clinical service. Some countries have a well-delineated rare disease pathway and have a national plan for rare diseases combined or not with a national plan for genomics in medicine. In other countries, there is a well-established organization of genetic centres that offer reimbursed genomic testing of RED and other rare diseases. Clinicians often rely upon research-funded laboratories or private companies. Notably, some member states rely on cross-border testing by way of an academic research project. Consequently, many clinicians are either unable to access testing or are confronted with long turnaround times. Overall, while the cost of sequencing has dropped, the cumulative cost of a genomic testing service for populations remains considerable. Importantly, the majority of countries reported healthcare budgets that limit testing. Short conclusion Despite technological advances, critical gaps in genomic testing remain in Europe, especially in smaller countries where no formal genomic testing pathways exist. Even within larger countries, the existing arrangements are insufficient to meet the demand and to ensure access. ERN-EYE promotes access to genetic testing in RED and emphasizes the clinical need and relevance of genetic testing in RED.

Published
2021

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