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

L. Wood, G. Bassez, C. Bleyenheuft, C. Campbell, L. Cossette, AC. Jimenez-Moreno, Y. Dai, H. Dawkins, JAD. Manera, C. Dogan, R. El Sherif, B. Fossati, C. Graham, J. Hilbert, K. Kastreva, E. Kimura, L. Korngut, A. Kostera-Pruszczyk, C. Lindberg,...

. 2018 ; 13 (1) : 155. [pub] 20180905

Jazyk angličtina Země Anglie, Velká Británie

Typ dokumentu časopisecké články, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc19012399

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.

Centre de recherche du CHU de Québec Université Laval Quebec Canada

Centre de référence des maladies neuromusculaires Hôpital Henri Mondor Paris France

Centro de Investigación Biomédica en Red en Enfermedades Raras Valencia Spain

Department of Functional Diagnostic Science Osaka University Graduate School of Medicine Suita Japan

Department of Neurology Alexandrovska University Hospital Medical University Sofia Bulgaria

Department of Neurology Medical University of Warsaw Warszawa Poland

Department of Neurology Peking Union Medical College Hospital Chinese Academy of Medical Sciences Beijing China

Department of Neurology University of Rochester Medical Center Rochester NY USA

Department of Neuropediatrics and Muscle Disorders Medical Center Faculty of Medicine University of Freiburg Freiburg Germany Centro Nacional de Análisis Genómico Barcelona Spain

Department of Promoting Clinical Trial and Translational Medicine National Center for Neurology and Psychiatry Translational Medical Center Kodaira Japan

Friedrich Baur Institute Department of Neurology Klinikum München Munich Germany

Institute of Genetic Medicine Newcastle University Newcastle upon Tyne UK

Institute of Neurology Psychiatry and Narcology Academy of medical science of Ukraine Kharkiv Ukraine

Muscular Dystrophy Association Chicago USA

Neurology Auckland City Hospital Private Bag 92024 Auckland 1142 New Zealand

Neurology Clinic School of Medicine University of Belgrade Belgrade Serbia

Neuromuscular and Neuro genetics Unit Air Hospital Cairo Egypt

Neuromuscular disorders Unit Hospital de la Santa Creu 1 Sant Pau Barcelona Spain

Office of Population Health Genomics Perth Western Australia

Radboud University Nijmegen Medical Centre Nijmegen Netherlands

Scientific Institute of Public Health Brussels Belgium

U O Neurology and Stroke Unit IRCCS Policlinico San Donato San Donato Milanese Milan Italy

University Hospital and Masaryk University Brno Brno Czech Republic

University Hospital Örebro Örebro Sweden

University Hospital Prague Motol and Charles University Prague Prague Czech Republic

University of Calgary Calgary Canada

Western University London Canada

Citace poskytuje Crossref.org

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