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J Neuromuscul Dis. 2017;4(4):293-306. doi: 10.3233/JND-170280.

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

Author information

1
Leiden University Medical Center, Department of Neurology, Leiden, The Netherlands.
2
John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, UK.
3
AP-HM, Hôpital d'Enfants de la Timone, Département de Génétique Médicale et de Biologie Cellulaire, Marseille, France.
4
Leiden University Medical Center, Department of Medical Statistics, Leiden, The Netherlands.
5
Hospital de Pediatría J. P. Garrahan, Pichincha, Argentina.
6
Department of Medical Genetics, Medical School, University of Athens, Choremio Research Laboratory, St. Sophia's Children's Hospital Thinon and Levadia Goudi, Athens, Greece.
7
Office of Population Health Genomics, Department of Health, Perth, WA, Australia.
8
Centre for Comparative Genomics, Murdoch University, Murdoch, WA, Australia.
9
WIV-ISP, Brussels, Belgium.
10
Department of Neurology, Medical University-Sofia, Sofia, Bulgaria.
11
Clinic of Neurology, University Hospital Sofiamed, Sofia, Bulgaria.
12
Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, University of Hong Kong, Hong Kong, China.
13
Department of Clinical Neurosciences and Hotchkiss Brain Institute, University of Calgary, South Health Campus, Calgary, AB, Canada.
14
Department of Paediatrics, Clinical Neurological Sciences & Epidemiology, Western University, London, ON, Canada.
15
Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
16
China DMD Care and Support Association c/o China Dolls, Xicheng district, China.
17
Division of Paediatric Neurology, University Hospital Centre Zagreb (KBC Zagreb) University of Zagreb Medical School, Zagreb, Croatia.
18
Institute for Biostatistic and Analyses, Masaryk University, Brno, Czech Republic.
19
Department of Child Neurology, Turku University Central Hospital, Turku, Finland.
20
Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Munich, Germany.
21
NIEH, Department of Molecular Genetics and Diagnostics, Budapest, Hungary.
22
Semmelweis Medical University, II. Department of Paediatric Neurology, Budapest, Hungary.
23
Kanchi Kamakoti CHILDS Trust and Apollo Children's Hospitals, Chennai, India.
24
Pasteur Institute of Iran, Karaj complex, Tehran, Iran.
25
Parent Project Onlus, Rome, Italy.
26
Department of Reproduction and Growth, Department of Medical Sciences, OSPFE, University of Ferrara, Ferrara, Italy.
27
214-1-1 Ogawa-Higashi, Kodaira, Tokyo, Japan.
28
Department of Neurology, Auckland DHB, Auckland, New Zealand.
29
Department of Neurology, Medical University of Warsaw, Warsaw, Poland.
30
Centro de Genética Médica Jacinto Magalhães, Porto, Portugal.
31
National Institute of Legal Medicine "Mina Minovici" - Genetics Laboratory, Bucharest, Romania.
32
Moscow Institute of Pediatrics, Moscow, Russia.
33
Clinic for Neurology and Psychiatry for Children and Youth, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
34
Department of Epidemiology, Erasmus University, Medical Centre, Rotterdam, The Netherlands.
35
Institute of Rare Diseases Research, SpainRDR and CIBERER, Institute of Health Carlos III, Madrid, Spain.
36
Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
37
Paediatric Neurology and Neurorehabilitation Unit, Lausanne University Hospital, Lausanne, Switzerland.
38
Unitat de Malalties Neuromusculars, Servei de Neurologia, Hospital de la Santa Creu i Sant Pau de Barcelona, Barcelona, Spain.
39
Hacettepe University Faculty of Health Sciences Department of Physiotherapy and Rehabilitation, Altindağ, Ankara, Turkey.
40
Neurology & Neurogenic Unit, Egypt Air Hospital, Ain Shams University, Egypt.
41
Action Duchenne, Epicentre, London, UK.
42
Institute of Neurology, Psychiatry and Narcology of NAMS, Kharkiv, Ukraine.
43
DuchenneConnect, Hackensack, NJ, USA.
44
University Medical Center Freiburg, Freiburg, Germany.
45
Center for Gene Therapy, The Research Institute, Nationwide Children's Hospital, Columbus, OH, USA.

Abstract

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.

KEYWORDS:

DMD; Duchenne muscular dystrophy; Neuromuscular diseases; TREAT-NMD

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