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

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• dc.contributor.author Wood, Libby
• dc.contributor.author Lochmüller, Hanns
• dc.date.accessioned 2019-11-28T08:29:12Z
• dc.date.available 2019-11-28T08:29:12Z
• dc.date.issued 2018
• dc.description.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.
• dc.description.sponsorship This work has received funding from the European Community’s Seventh Framework Programme (FP7/2007-2013) under grant agreement n° 305444 “RD-CONNECT: An integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research”, Hanns Lochmüller has received funding from the Medical Research Council UK (grant reference G1002274, grant ID 98482).
• dc.format.mimetype application/pdf
• dc.identifier.citation Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC et al. Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. Orphanet J Rare Dis. 2018; 13(1):155. DOI 10.1186/s13023-018-0889-0
• dc.identifier.doi http://dx.doi.org/10.1186/s13023-018-0889-0
• dc.identifier.issn 1750-1172
• dc.identifier.uri http://hdl.handle.net/10230/43026
• dc.language.iso eng
• dc.publisher BioMed Central
• dc.relation.ispartof Orphanet J Rare Dis. 2018; 13(1):155
• dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/305444
• dc.rights © The Author(s). 2018 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/4.0/
• dc.subject.keyword Clinical trials
• dc.subject.keyword Myotonic dystrophy
• dc.subject.keyword Registries
• dc.subject.keyword Trial readiness
• dc.title Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion