Περίληψη:
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 ofDMDacross 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. © 2017 - IOS Press and the authors. All rights reserved.
Συγγραφείς:
Koeks, Z.
Bladen, C.L.
Salgado, D.
Van Zwet, E.
Pogoryelova, O.
McMacken, G.
Monges, S.
Foncuberta, M.E.
Kekou, K.
Kosma, K.
Dawkins, H.
Lamont, L.
Bellgard, M.I.
Roy, A.J.
Chamova, T.
Guergueltcheva, V.
Chan, S.
Korngut, L.
Campbell, C.
Dai, Y.
Wang, J.
Barišić, N.
Brabec, P.
Lähdetie, J.
Walter, M.C.
Schreiber-Katz, O.
Karcagi, V.
Garami, M.
Herczegfalvi, A.
Viswanathan, V.
Bayat, F.
Buccella, F.
Ferlini, A.
Kimura, E.
Van Den Bergen, J.C.
Rodrigues, M.
Roxburgh, R.
Lusakowska, A.
Kostera-Pruszczyk, A.
Santos, R.
Neagu, E.
Artemieva, S.
Rasic, V.M.
Vojinovic, D.
Posada, M.
Bloetzer, C.
Klein, A.
Díaz-Manera, J.
Gallardo, E.
Karaduman, A.A.
Oznur, T.
Topalolu, H.
El Sherif, R.
Stringer, A.
Shatillo, A.V.
Martin, A.S.
Peay, H.L.
Kirschner, J.
Flanigan, K.M.
Straub, V.
Bushby, K.
Béroud, C.
Verschuuren, J.J.
Lochmüller, H.
Λέξεις-κλειδιά:
corticosteroid; corticosteroid, Article; assisted ventilation; cardiomyopathy; child; cohort analysis; controlled study; cross-sectional study; data base; disease registry; drug efficacy; Duchenne muscular dystrophy; echocardiography; female; gene identification; gene mutation; genetic identification; good clinical practice; health care system; heart protection; human; major clinical study; male; muscle weakness; outcome assessment; preschool child; priority journal; respiratory failure; scoliosis; survival rate; adolescent; adult; Duchenne muscular dystrophy; genetics; infant; newborn; treatment outcome; young adult, 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
