<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Libby Wood</style></author><author><style face="normal" font="default" size="100%">Guillaume Bassez</style></author><author><style face="normal" font="default" size="100%">Corinne Bleyenheuft</style></author><author><style face="normal" font="default" size="100%">Craig Campbell</style></author><author><style face="normal" font="default" size="100%">Louise Cossette</style></author><author><style face="normal" font="default" size="100%">Aura Cecilia Jimenez-Moreno</style></author><author><style face="normal" font="default" size="100%">Dai, Yi</style></author><author><style face="normal" font="default" size="100%">Hugh Dawkins</style></author><author><style face="normal" font="default" size="100%">Jorge Alberto Diaz Manera</style></author><author><style face="normal" font="default" size="100%">Celine Dogan</style></author><author><style face="normal" font="default" size="100%">Rasha El Sherif</style></author><author><style face="normal" font="default" size="100%">Barbara Fossati</style></author><author><style face="normal" font="default" size="100%">Caroline Graham</style></author><author><style face="normal" font="default" size="100%">James Hilbert</style></author><author><style face="normal" font="default" size="100%">Kristinia Kastreva</style></author><author><style face="normal" font="default" size="100%">En Kimura</style></author><author><style face="normal" font="default" size="100%">Lawrence Korngut</style></author><author><style face="normal" font="default" size="100%">Anna Kostera-Pruszczyk</style></author><author><style face="normal" font="default" size="100%">Christopher Lindberg</style></author><author><style face="normal" font="default" size="100%">Bjorn Lindvall</style></author><author><style face="normal" font="default" size="100%">Elizabeth Luebbe</style></author><author><style face="normal" font="default" size="100%">Anna Lusakowska</style></author><author><style face="normal" font="default" size="100%">Radim Mazanec</style></author><author><style face="normal" font="default" size="100%">Giovanni Meola</style></author><author><style face="normal" font="default" size="100%">Lianna Orlando</style></author><author><style face="normal" font="default" size="100%">Masanori P Takahashi</style></author><author><style face="normal" font="default" size="100%">Stojan Peric</style></author><author><style face="normal" font="default" size="100%">Jack Puymirat</style></author><author><style face="normal" font="default" size="100%">Rakocevic-Stojanovic, Vidosava</style></author><author><style face="normal" font="default" size="100%">Miriam Rodrigues</style></author><author><style face="normal" font="default" size="100%">Richard Roxburgh</style></author><author><style face="normal" font="default" size="100%">Benedikt Schoser</style></author><author><style face="normal" font="default" size="100%">Sonia Segovia</style></author><author><style face="normal" font="default" size="100%">Andriy Shatillo</style></author><author><style face="normal" font="default" size="100%">Simone Thiele</style></author><author><style face="normal" font="default" size="100%">Ivailo Tournev</style></author><author><style face="normal" font="default" size="100%">Baziel van Engelen</style></author><author><style face="normal" font="default" size="100%">Stanislav Vohanka</style></author><author><style face="normal" font="default" size="100%">Hanns Lochmüller</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.</style></title><secondary-title><style face="normal" font="default" size="100%">Orphanet J Rare Dis</style></secondary-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Clinical trials</style></keyword><keyword><style  face="normal" font="default" size="100%">Myotonic dystrophy</style></keyword><keyword><style  face="normal" font="default" size="100%">REGISTRIES</style></keyword><keyword><style  face="normal" font="default" size="100%">Trial readiness</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2018</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2018 Sep 05</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">13</style></volume><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;&lt;b&gt;BACKGROUND: &lt;/b&gt;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).&lt;/p&gt;

&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;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.&lt;/p&gt;

&lt;p&gt;&lt;b&gt;CONCLUSIONS: &lt;/b&gt;The community should consider how to maximise this collective resource in future therapeutic programmes.&lt;/p&gt;
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