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.authorWood, Libby
dc.contributor.authorBassez, Guillaume
dc.contributor.authorBleyenheuft, Corinne
dc.contributor.authorCampbell, Craig
dc.contributor.authorCossette, Louise
dc.contributor.authorJimenez-Moreno, Aura C
dc.contributor.authorDai, Yi
dc.contributor.authorDawkins, Hugh
dc.contributor.authorManera, Jorge A D
dc.contributor.authorDogan, Celine
dc.contributor.authorel Sherif, Rasha
dc.contributor.authorFossati, Barbara
dc.contributor.authorGraham, Caroline
dc.contributor.authorHilbert, James
dc.contributor.authorKastreva, Kristinia
dc.contributor.authorKimura, En
dc.contributor.authorKorngut, Lawrence
dc.contributor.authorKostera-Pruszczyk, Anna
dc.contributor.authorLindberg, Christopher
dc.contributor.authorLindvall, Bjorn
dc.contributor.authorLuebbe, Elizabeth
dc.contributor.authorLusakowska, Anna
dc.contributor.authorMazanec, Radim
dc.contributor.authorMeola, Giovani
dc.contributor.authorOrlando, Liannna
dc.contributor.authorTakahashi, Masanori P
dc.contributor.authorPeric, Stojan
dc.contributor.authorPuymirat, Jack
dc.contributor.authorRakocevic-Stojanovic, Vidosava
dc.contributor.authorRodrigues, Miriam
dc.contributor.authorRoxburgh, Richard
dc.contributor.authorSchoser, Benedikt
dc.contributor.authorSegovia, Sonia
dc.contributor.authorShatillo, Andriy
dc.contributor.authorThiele, Simone
dc.contributor.authorTournev, Ivailo
dc.contributor.authorvan Engelen, Baziel
dc.contributor.authorVohanka, Stanislav
dc.contributor.authorLochmüller, Hanns
dc.date.accessioned2018-11-07T17:02:37Z
dc.date.available2018-11-07T17:02:37Z
dc.date.issued2018-09-05
dc.date.updated2018-11-07T17:02:36Z
dc.description.abstractAbstract 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.identifier.citationOrphanet Journal of Rare Diseases. 2018 Sep 05;13(1):155
dc.identifier.doihttps://doi.org/10.1186/s13023-018-0889-0
dc.identifier.urihttp://hdl.handle.net/1880/108969
dc.language.rfc3066en
dc.rights.holderThe Author(s).
dc.titleEight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
dc.typeJournal Article
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