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Orphanet J Rare Dis. 2018 Sep 5;13(1):155. doi: 10.1186/s13023-018-0889-0.

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.

Author information

1
Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK. libby.wood@ncl.ac.uk.
2
Centre de référence des maladies neuromusculaires, Hôpital Henri Mondor, Paris, France.
3
Scientific Institute of Public Health, Brussels, Belgium.
4
Western University, London, Canada.
5
Centre de recherche du CHU de Québec, Université Laval, Quebec, Canada.
6
Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
7
Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
8
Office of Population Health Genomics, Perth, Western Australia.
9
Neuromuscular disorders Unit, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain.
10
Neuromuscular & Neuro-genetics Unit, Air Hospital, Cairo, Egypt.
11
U.O. Neurology and Stroke Unit, IRCCS Policlinico San Donato, San Donato Milanese, Milan, Italy.
12
Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA.
13
Department of Neurology, Alexandrovska University Hospital, Medical University, Sofia, Bulgaria.
14
Department of Promoting Clinical Trial and Translational Medicine, National Center for Neurology and Psychiatry, Translational Medical Center, Kodaira, Japan.
15
University of Calgary, Calgary, Canada.
16
Department of Neurology, Medical University of Warsaw, Warszawa, Poland.
17
University Hospital Örebro, Örebro, Sweden.
18
University Hospital Prague- Motol and Charles University Prague, Prague, Czech Republic.
19
Muscular Dystrophy Association, Chicago, USA.
20
Department of Functional Diagnostic Science, Osaka University Graduate School of Medicine, Suita, Japan.
21
Neurology Clinic, School of Medicine, University of Belgrade, Belgrade, Serbia.
22
Neurology, Auckland City Hospital, Private Bag 92024, Auckland, 1142, New Zealand.
23
Friedrich-Baur-Institute, Department of Neurology, Klinikum München, Munich, Germany.
24
Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Valencia, Spain.
25
Institute of Neurology, Psychiatry and Narcology, Academy of medical science of Ukraine, Kharkiv, Ukraine.
26
Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands.
27
University Hospital and Masaryk University Brno, Brno, Czech Republic.
28
Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
29
Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.

Abstract

BACKGROUND:

Myotonic Dystrophy is the most common form of muscular dystrophy in adults, affecting an estimated 10 per 100,000 people. It is a multisystemic disorder affecting multiple generations with increasing severity. There are currently no licenced therapies to reverse, slow down or cure its symptoms. In 2009 TREAT-NMD (a global alliance with the mission of improving trial readiness for neuromuscular diseases) and the Marigold Foundation held a workshop of key opinion leaders to agree a minimal dataset for patient registries in myotonic dystrophy. Eight years after this workshop, we surveyed 22 registries collecting information on myotonic dystrophy patients to assess the proliferation and utility the dataset agreed in 2009. These registries represent over 10,000 myotonic dystrophy patients worldwide (Europe, North America, Asia and Oceania).

RESULTS:

The registries use a variety of data collection methods (e.g. online patient surveys or clinician led) and have a variety of budgets (from being run by volunteers to annual budgets over €200,000). All registries collect at least some of the originally agreed data items, and a number of additional items have been suggested in particular items on cognitive impact.

CONCLUSIONS:

The community should consider how to maximise this collective resource in future therapeutic programmes.

KEYWORDS:

Clinical trials; Myotonic dystrophy; Registries; Trial readiness

PMID:
30185236
PMCID:
PMC6126043
DOI:
10.1186/s13023-018-0889-0
[Indexed for MEDLINE]
Free PMC Article

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