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oai:repisalud.isciii.es:20.500.12105/155732025-05-27T10:52:08Zcom_20.500.12105_2052com_20.500.12105_2051col_20.500.12105_19616

00925njm 22002777a 4500 dc Koeks, Zaïda author Bladen, Catherine L author Salgado, David author van Zwet, Erik author Pogoryelova, Oksana author McMacken, Grace author Monges, Soledad author Foncuberta, Maria E author Kekou, Kyriaki author Kosma, Konstantina author Dawkins, Hugh author Lamont, Leanne author Bellgard, Matthew I author Roy, Anna J author Chamova, Teodora author Guergueltcheva, Velina author Chan, Sophelia author Korngut, Lawrence author Campbell, Craig author Dai, Yi author Wang, Jen author Barišić, Nina author Brabec, Petr author Lähdetie, Jaana author Walter, Maggie C author Schreiber-Katz, Olivia author Karcagi, Veronika author Garami, Marta author Herczegfalvi, Agnes author Viswanathan, Venkatarman author Bayat, Farhad author Buccella, Filippo author Ferlini, Alessandra author Kimura, En author van den Bergen, Janneke C author Rodrigues, Miriam author Roxburgh, Richard author Lusakowska, Anna author Kostera-Pruszczyk, Anna author Santos, Rosário author Neagu, Elena author Artemieva, Svetlana author Rasic, Vedrana Milic author Vojinovic, Dina author Posada De la Paz, Manuel author Bloetzer, Clemens author Klein, Andrea author Díaz-Manera, Jordi author Gallardo, Eduard author Karaduman, A Ayşe author Oznur, Tunca author Topaloğlu, Haluk author El Sherif, Rasha author Stringer, Angela author Shatillo, Andriy V author Martin, Ann S author Peay, Holly L author Kirschner, Jan author Flanigan, Kevin M author Straub, Volker author Bushby, Kate author Béroud, Christophe author Verschuuren, Jan J author Lochmüller, Hanns author 2017 Background: Recent short-term clinical trials in patients with Duchenne Muscular Dystrophy (DMD) have indicated greater disease variability in terms of progression than expected. In addition, as average life-expectancy increases, reliable data is required on clinical progression in the older DMD population. Objective: To determine the effects of corticosteroids on major clinical outcomes of DMD in a large multinational cohort of genetically confirmed DMD patients. Methods: In this cross-sectional study we analysed clinical data from 5345 genetically confirmed DMD patients from 31 countries held within the TREAT-NMD global DMD database. For analysis patients were categorised by corticosteroid background and further stratified by age. Results: Loss of ambulation in non-steroid treated patients was 10 years and in corticosteroid treated patients 13 years old (p = 0.0001). Corticosteroid treated patients were less likely to need scoliosis surgery (p < 0.001) or ventilatory support (p < 0.001) and there was a mild cardioprotective effect of corticosteroids in the patient population aged 20 years and older (p = 0.0035). Patients with a single deletion of exon 45 showed an increased survival in contrast to other single exon deletions. Conclusions: This study provides data on clinical outcomes of DMD across many healthcare settings and including a sizeable cohort of older patients. Our data confirm the benefits of corticosteroid treatment on ambulation, need for scoliosis surgery, ventilation and, to a lesser extent, cardiomyopathy. This study underlines the importance of data collection via patient registries and the critical role of multi-centre collaboration in the rare disease field. J Neuromuscul Dis. 2017;4(4):293-306. 2214-3599 http://hdl.handle.net/20.500.12105/15573 29125504 10.3233/JND-170280 Journal of neuromuscular diseases Duchenne muscular dystrophy DMD Neuromuscular diseases TREAT-NMD Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database