serval:BIB_0337409C22AE
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.
10.3233/JND-170280
29125504
Koeks
Z.
author
Bladen
C.L.
author
Salgado
D.
author
van Zwet
E.
author
Pogoryelova
O.
author
McMacken
G.
author
Monges
S.
author
Foncuberta
M.E.
author
Kekou
K.
author
Kosma
K.
author
Dawkins
H.
author
Lamont
L.
author
Bellgard
M.I.
author
Roy
A.J.
author
Chamova
T.
author
Guergueltcheva
V.
author
Chan
S.
author
Korngut
L.
author
Campbell
C.
author
Dai
Y.
author
Wang
J.
author
Barišić
N.
author
Brabec
P.
author
Lähdetie
J.
author
Walter
M.C.
author
Schreiber-Katz
O.
author
Karcagi
V.
author
Garami
M.
author
Herczegfalvi
A.
author
Viswanathan
V.
author
Bayat
F.
author
Buccella
F.
author
Ferlini
A.
author
Kimura
E.
author
van den Bergen
J.C.
author
Rodrigues
M.
author
Roxburgh
R.
author
Lusakowska
A.
author
Kostera-Pruszczyk
A.
author
Santos
R.
author
Neagu
E.
author
Artemieva
S.
author
Rasic
V.M.
author
Vojinovic
D.
author
Posada
M.
author
Bloetzer
C.
author
Klein
A.
author
Díaz-Manera
J.
author
Gallardo
E.
author
Karaduman
A.A.
author
Oznur
T.
author
Topaloğlu
H.
author
El Sherif
R.
author
Stringer
A.
author
Shatillo
A.V.
author
Martin
A.S.
author
Peay
H.L.
author
Kirschner
J.
author
Flanigan
K.M.
author
Straub
V.
author
Bushby
K.
author
Béroud
C.
author
Verschuuren
J.J.
author
Lochmüller
H.
author
article
2017
Journal of neuromuscular diseases
2214-3599
journal
4
4
293-306
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.
To determine the effects of corticosteroids on major clinical outcomes of DMD in a large multinational cohort of genetically confirmed DMD patients.
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.
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.
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/therapeutic use
Adult
Child
Child, Preschool
Cross-Sectional Studies
Databases as Topic
Humans
Infant
Infant, Newborn
Male
Muscular Dystrophy, Duchenne/epidemiology
Muscular Dystrophy, Duchenne/genetics
Muscular Dystrophy, Duchenne/therapy
Treatment Outcome
Young Adult
DMD
Duchenne muscular dystrophy
Neuromuscular diseases
TREAT-NMD
eng
60_published
true
peer-reviewed
Publication types: Journal Article
Publication Status: ppublish
University of Lausanne
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