Orphanet Journal of Rare Diseases (Sep 2018)
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
- Libby Wood,
- Guillaume Bassez,
- Corinne Bleyenheuft,
- Craig Campbell,
- Louise Cossette,
- Aura Cecilia Jimenez-Moreno,
- Yi Dai,
- Hugh Dawkins,
- Jorge Alberto Diaz Manera,
- Celine Dogan,
- Rasha el Sherif,
- Barbara Fossati,
- Caroline Graham,
- James Hilbert,
- Kristinia Kastreva,
- En Kimura,
- Lawrence Korngut,
- Anna Kostera-Pruszczyk,
- Christopher Lindberg,
- Bjorn Lindvall,
- Elizabeth Luebbe,
- Anna Lusakowska,
- Radim Mazanec,
- Giovani Meola,
- Liannna Orlando,
- Masanori P. Takahashi,
- Stojan Peric,
- Jack Puymirat,
- Vidosava Rakocevic-Stojanovic,
- Miriam Rodrigues,
- Richard Roxburgh,
- Benedikt Schoser,
- Sonia Segovia,
- Andriy Shatillo,
- Simone Thiele,
- Ivailo Tournev,
- Baziel van Engelen,
- Stanislav Vohanka,
- Hanns Lochmüller
Affiliations
- Libby Wood
- Institute of Genetic Medicine, Newcastle University
- Guillaume Bassez
- Centre de référence des maladies neuromusculaires, Hôpital Henri Mondor
- Corinne Bleyenheuft
- Scientific Institute of Public Health
- Craig Campbell
- Western University
- Louise Cossette
- Centre de recherche du CHU de Québec, Université Laval
- Aura Cecilia Jimenez-Moreno
- Institute of Genetic Medicine, Newcastle University
- Yi Dai
- Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences
- Hugh Dawkins
- Office of Population Health Genomics
- Jorge Alberto Diaz Manera
- Neuromuscular disorders Unit, Hospital de la Santa Creu I Sant Pau
- Celine Dogan
- Centre de référence des maladies neuromusculaires, Hôpital Henri Mondor
- Rasha el Sherif
- Neuromuscular & Neuro-genetics Unit, Air Hospital
- Barbara Fossati
- U.O. Neurology and Stroke Unit, IRCCS Policlinico San Donato
- Caroline Graham
- Office of Population Health Genomics
- James Hilbert
- Department of Neurology, University of Rochester Medical Center
- Kristinia Kastreva
- Department of Neurology, Alexandrovska University Hospital, Medical University
- En Kimura
- Department of Promoting Clinical Trial and Translational Medicine, National Center for Neurology and Psychiatry, Translational Medical Center
- Lawrence Korngut
- University of Calgary
- Anna Kostera-Pruszczyk
- Department of Neurology, Medical University of Warsaw
- Christopher Lindberg
- University Hospital Örebro
- Bjorn Lindvall
- University Hospital Örebro
- Elizabeth Luebbe
- Department of Neurology, University of Rochester Medical Center
- Anna Lusakowska
- Department of Neurology, Medical University of Warsaw
- Radim Mazanec
- University Hospital Prague- Motol and Charles University Prague
- Giovani Meola
- U.O. Neurology and Stroke Unit, IRCCS Policlinico San Donato
- Liannna Orlando
- Muscular Dystrophy Association
- Masanori P. Takahashi
- Department of Functional Diagnostic Science, Osaka University Graduate School of Medicine
- Stojan Peric
- Neurology Clinic, School of Medicine, University of Belgrade
- Jack Puymirat
- Centre de recherche du CHU de Québec, Université Laval
- Vidosava Rakocevic-Stojanovic
- Neurology Clinic, School of Medicine, University of Belgrade
- Miriam Rodrigues
- Neurology, Auckland City Hospital
- Richard Roxburgh
- Neurology, Auckland City Hospital
- Benedikt Schoser
- Friedrich-Baur-Institute, Department of Neurology, Klinikum München
- Sonia Segovia
- Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER)
- Andriy Shatillo
- Institute of Neurology, Psychiatry and Narcology, Academy of medical science of Ukraine
- Simone Thiele
- Friedrich-Baur-Institute, Department of Neurology, Klinikum München
- Ivailo Tournev
- Department of Neurology, Alexandrovska University Hospital, Medical University
- Baziel van Engelen
- Radboud University Nijmegen Medical Centre
- Stanislav Vohanka
- University Hospital and Masaryk University Brno
- Hanns Lochmüller
- Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg
- DOI
- https://doi.org/10.1186/s13023-018-0889-0
- Journal volume & issue
-
Vol. 13,
no. 1
pp. 1 – 11
Abstract
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.
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