TY - JOUR
T1 - Eight years after an international workshop on myotonic dystrophy patient registries
T2 - Case study of a global collaboration for a rare disease
AU - Wood, Libby
AU - Bassez, Guillaume
AU - Bleyenheuft, Corinne
AU - Campbell, Craig
AU - Cossette, Louise
AU - Jimenez-Moreno, Aura Cecilia
AU - Dai, Yi
AU - Dawkins, Hugh
AU - Manera, Jorge Alberto Diaz
AU - Dogan, Celine
AU - El Sherif, Rasha
AU - Fossati, Barbara
AU - Graham, Caroline
AU - Hilbert, James
AU - Kastreva, Kristinia
AU - Kimura, En
AU - Korngut, Lawrence
AU - Kostera-Pruszczyk, Anna
AU - Lindberg, Christopher
AU - Lindvall, Bjorn
AU - Luebbe, Elizabeth
AU - Lusakowska, Anna
AU - Mazanec, Radim
AU - Meola, Giovani
AU - Orlando, Liannna
AU - Takahashi, Masanori P.
AU - Peric, Stojan
AU - Puymirat, Jack
AU - Rakocevic-Stojanovic, Vidosava
AU - Rodrigues, Miriam
AU - Roxburgh, Richard
AU - Schoser, Benedikt
AU - Segovia, Sonia
AU - Shatillo, Andriy
AU - Thiele, Simone
AU - Tournev, Ivailo
AU - Van Engelen, Baziel
AU - Vohanka, Stanislav
AU - Lochmüller, Hanns
PY - 2018/9/5
Y1 - 2018/9/5
N2 - 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.
AB - 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.
KW - Clinical trials
KW - Myotonic dystrophy
KW - Registries
KW - Trial readiness
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U2 - 10.1186/s13023-018-0889-0
DO - 10.1186/s13023-018-0889-0
M3 - Article
AN - SCOPUS:85053164564
VL - 13
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
SN - 1750-1172
IS - 1
M1 - 155
ER -