Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
Koeks, Z; Bladen, CL; Salgado, D; van Zwet, E; Pogoryelova, O; McMacken, G; Monges, S; Foncuberta, M; Kekou, K; Kosma, K; Dawkins, H; Lamont, L; Bellgard, MI; Roy, AJ; Chamova, T; Guergueltcheva, V; Chan, S; Korngut, L; Campbell, C; Dai, Y; Wang, J; Barisic, N; Brabec, P; Lahdetie, J; Walter, MC; Schreiber-Katz, O; Karcagi, V; Garami, M; Herczegfalvi, Ágnes; Viswanathan, V; Bayat, F; Buccella, F; Ferlini, A; Kimura, E; van den Bergen, JC; Rodrigues, M; Roxburgh, R; Lusakowska, A; Kostera-Pruszczyk, A; Santos, R; Neagu, E; Artemieva, S; Rasic, VM; Vojinovic, D; Posada, M; Bloetzer, C; Klein, A; Diaz-Manera, J; Gallardo, E; Karaduman, AA; Oznur, T; Topaloglu, H; El, Sherif R; Stringer, A; Shatillo, AV; Martin, AS; Peay, HL; Kirschner, J; Flanigan, KM; Straub, V; Bushby, K; Beroud, C; Verschuuren, JJ; Lochmuller, H
Folyóiratcikk
JOURNAL OF NEUROMUSCULAR DISEASES
vol.:4,
issue.:4,
p.:293-306.
ISSN: 2214-3599
PubMed ID:
29125504
Megjelenés éve:
2017
Kivonat:
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.
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