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

Authors	WOOD Libby BASSEZ Guillaume BLEYENHEUFT Corinne CAMPBELL Craig COSSETTE Louise JIMENEZ-MORENO Aura Cecilia DAI Yi DAWKINS Hugh MANERA Jorge Alberto DOGAN Celine EL SHERIF Rasha FOSSATI Barbara GRAHAM Caroline HILBERT James KASTREVA Kristinia KIMURA En KORNGUT Lawrence KOSTERA-PRUSZCZYK Anna LINDBERG Christopher LINDVALL Bjorn LUEBBE Elizabeth LUSAKOWSKA Anna MAZANEC Radim MEOLA Giovani ORLANDO Liannna TAKAHASHI Masanori P. PERIC Stojan PUYMIRAT Jack RAKOCEVIC-STOJANOVIC Vidosava RODRIGUES Miriam ROXBURGH Richard SCHOSER Benedikt SEGOVIA Sonia SHATILLO Andriy THIELE Simone TOURNEV Ivailo ENGELEN van Baziel VOHÁŇKA Stanislav LOCHMULLER Hanns
Year of publication	2018
Type	Article in Periodical
Magazine / Source	ORPHANET JOURNAL OF RARE DISEASES
MU Faculty or unit	Faculty of Medicine
Citation
Doi	http://dx.doi.org/10.1186/s13023-018-0889-0
Keywords	Myotonic dystrophy; Registries; Clinical trials; Trial readiness
Description	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 (sic) 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.