TY - JOUR
TI - Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
AU - Koeks, Z.
AU - Bladen, C.L.
AU - Salgado, D.
AU - Van Zwet, E.
AU - Pogoryelova, O.
AU - McMacken, G.
AU - Monges, S.
AU - Foncuberta, M.E.
AU - Kekou, K.
AU - Kosma, K.
AU - Dawkins, H.
AU - Lamont, L.
AU - Bellgard, M.I.
AU - Roy, A.J.
AU - Chamova, T.
AU - Guergueltcheva, V.
AU - Chan, S.
AU - Korngut, L.
AU - Campbell, C.
AU - Dai, Y.
AU - Wang, J.
AU - Barišić, N.
AU - Brabec, P.
AU - Lähdetie, J.
AU - Walter, M.C.
AU - Schreiber-Katz, O.
AU - Karcagi, V.
AU - Garami, M.
AU - Herczegfalvi, A.
AU - Viswanathan, V.
AU - Bayat, F.
AU - Buccella, F.
AU - Ferlini, A.
AU - Kimura, E.
AU - Van Den Bergen, J.C.
AU - Rodrigues, M.
AU - Roxburgh, R.
AU - Lusakowska, A.
AU - Kostera-Pruszczyk, A.
AU - Santos, R.
AU - Neagu, E.
AU - Artemieva, S.
AU - Rasic, V.M.
AU - Vojinovic, D.
AU - Posada, M.
AU - Bloetzer, C.
AU - Klein, A.
AU - Díaz-Manera, J.
AU - Gallardo, E.
AU - Karaduman, A.A.
AU - Oznur, T.
AU - Topalolu, H.
AU - El Sherif, R.
AU - Stringer, A.
AU - Shatillo, A.V.
AU - Martin, A.S.
AU - Peay, H.L.
AU - Kirschner, J.
AU - Flanigan, K.M.
AU - Straub, V.
AU - Bushby, K.
AU - Béroud, C.
AU - Verschuuren, J.J.
AU - Lochmüller, H.
JO - Journal of Neuromuscular Diseases
PY - 2017
VL - 4
TODO - 4
SP - 293-306
PB - IOS Press BV
SN - 2214-3599, 2214-3602
TODO - 10.3233/JND-170280
TODO - 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
TODO - 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.
ER -