Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

Details

Ressource 1Download: jnd-4-jnd170280.pdf (662.08 [Ko])
State: Public
Version: Final published version
Serval ID
serval:BIB_0337409C22AE
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.
Journal
Journal of neuromuscular diseases
Author(s)
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., Topaloğlu 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.
ISSN
2214-3599 (Print)
Publication state
Published
Issued date
2017
Peer-reviewed
Oui
Volume
4
Number
4
Pages
293-306
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Abstract
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.
Keywords
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
Pubmed
Open Access
Yes
Create date
22/11/2017 9:16
Last modification date
20/08/2019 12:25
Usage data