Please use this identifier to cite or link to this item:http://hdl.handle.net/20.500.12105/15573
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
Koeks, Zaïda | Bladen, Catherine L | Salgado, David | van Zwet, Erik | Pogoryelova, Oksana | McMacken, Grace | Monges, Soledad | Foncuberta, Maria E | Kekou, Kyriaki | Kosma, Konstantina | Dawkins, Hugh | Lamont, Leanne | Bellgard, Matthew I | Roy, Anna J | Chamova, Teodora | Guergueltcheva, Velina | Chan, Sophelia | Korngut, Lawrence | Campbell, Craig | Dai, Yi | Wang, Jen | Barišić, Nina | Brabec, Petr | Lähdetie, Jaana | Walter, Maggie C | Schreiber-Katz, Olivia | Karcagi, Veronika | Garami, Marta | Herczegfalvi, Agnes | Viswanathan, Venkatarman | Bayat, Farhad | Buccella, Filippo | Ferlini, Alessandra | Kimura, En | van den Bergen, Janneke C | Rodrigues, Miriam | Roxburgh, Richard | Lusakowska, Anna | Kostera-Pruszczyk, Anna | Santos, Rosário | Neagu, Elena | Artemieva, Svetlana | Rasic, Vedrana Milic | Vojinovic, Dina | Posada De la Paz, Manuel ISCIII | Bloetzer, Clemens | Klein, Andrea | Díaz-Manera, Jordi | Gallardo, Eduard | Karaduman, A Ayşe | Oznur, Tunca | Topaloğlu, Haluk | El Sherif, Rasha | Stringer, Angela | Shatillo, Andriy V | Martin, Ann S | Peay, Holly L | Kirschner, Jan | Flanigan, Kevin M | Straub, Volker | Bushby, Kate | Béroud, Christophe | Verschuuren, Jan J | Lochmüller, Hanns
J Neuromuscul Dis. 2017;4(4):293-306.
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.
Adolescent | Adrenal Cortex Hormones | Adult | Child | Child, Preschool | Cross-Sectional Studies | Databases as Topic | Humans | Infant | Infant, Newborn | Male | Muscular Dystrophy, Duchenne | Treatment Outcome | Young Adult
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