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Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
Z. Koeks, CL. Bladen, D. Salgado, E. van Zwet, O. Pogoryelova, G. McMacken, S. Monges, ME. Foncuberta, K. Kekou, K. Kosma, H. Dawkins, L. Lamont, MI. Bellgard, AJ. Roy, T. Chamova, V. Guergueltcheva, S. Chan, L. Korngut, C. Campbell, Y. Dai, J....
Jazyk angličtina Země Nizozemsko
Typ dokumentu časopisecké články
PubMed
29125504
DOI
10.3233/jnd-170280
Knihovny.cz E-zdroje
- MeSH
- databáze jako téma MeSH
- dítě MeSH
- dospělí MeSH
- Duchennova muskulární dystrofie epidemiologie genetika terapie MeSH
- hormony kůry nadledvin terapeutické užití MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- průřezové studie MeSH
- výsledek terapie MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- kojenec MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- Publikační typ
- časopisecké články MeSH
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.
1 1 Ogawa Higashi Kodaira Tokyo Japan
Action Duchenne Epicentre London UK
Center for Gene Therapy The Research Institute Nationwide Children's Hospital Columbus OH USA
Centre for Comparative Genomics Murdoch University Murdoch WA Australia
Centro de Genética Médica Jacinto Magalhães Porto Portugal
China DMD Care and Support Association c o China Dolls Xicheng district China
Clinic of Neurology University Hospital Sofiamed Sofia Bulgaria
Department of Child Neurology Turku University Central Hospital Turku Finland
Department of Neurology Auckland DHB Auckland New Zealand
Department of Neurology Medical University of Warsaw Warsaw Poland
Department of Neurology Medical University Sofia Sofia Bulgaria
DuchenneConnect Hackensack NJ USA
Hospital de Pediatría J P Garrahan Pichincha Argentina
Institute for Biostatistic and Analyses Masaryk University Brno Czech Republic
Institute of Neurology Psychiatry and Narcology of NAMS Kharkiv Ukraine
Institute of Rare Diseases Research SpainRDR and CIBERER Institute of Health Carlos 3 Madrid Spain
Institute of Social and Preventive Medicine University of Bern Bern Switzerland
Kanchi Kamakoti CHILDS Trust and Apollo Children's Hospitals Chennai India
Leiden University Medical Center Department of Medical Statistics Leiden The Netherlands
Leiden University Medical Center Department of Neurology Leiden The Netherlands
Moscow Institute of Pediatrics Moscow Russia
National Institute of Legal Medicine Mina Minovici Genetics Laboratory Bucharest Romania
Neurology and Neurogenic Unit Egypt Air Hospital Ain Shams University Egypt
NIEH Department of Molecular Genetics and Diagnostics Budapest Hungary
Office of Population Health Genomics Department of Health Perth WA Australia
Paediatric Neurology and Neurorehabilitation Unit Lausanne University Hospital Lausanne Switzerland
Parent Project Onlus Rome Italy
Pasteur Institute of Iran Karaj complex Tehran Iran
Semmelweis Medical University 2 Department of Paediatric Neurology Budapest Hungary
Citace poskytuje Crossref.org
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