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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

Lookup NU author(s): Dr Cecilia Jimenez MorenoORCiD, Professor Jordi Diaz ManeraORCiD



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


© 2018 The Author(s). 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.

Publication metadata

Author(s): Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Diaz-Manera J, Dogan C, El Sherif R, Fossati B, Graham C, Hilbert J, Kastreva K, Kimura E, Korngut L, Kostera-Pruszczyk A, Lindberg C, Lindvall B, Luebbe E, Lusakowska A, Mazanec R, Meola G, Orlando L, Takahashi MP, Peric S, Puymirat J, Rakocevic-Stojanovic V, Rodrigues M, Roxburgh R, Schoser B, Segovia S, Shatillo A, Thiele S, Tournev I, Van Engelen B, Vohanka S, Lochmuller H

Publication type: Article

Publication status: Published

Journal: Orphanet Journal of Rare Diseases

Year: 2018

Volume: 13

Issue: 1

Online publication date: 05/09/2018

Acceptance date: 12/08/2018

Date deposited: 06/11/2018

ISSN (electronic): 1750-1172

Publisher: BioMed Central Ltd.


DOI: 10.1186/s13023-018-0889-0


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Funder referenceFunder name
Marigold Foundation
Muscular Dystrophy UK