The TREAT-NMD duchenne muscular dystrophy registries: Conception, design, and utilization by industry and academia

Authors	BLADEN Catherine L. RAFFERTY Karen STRAUB Volker MONGES Soledad MORESCO Angélica DAWKINS Hugh ROY Anna CHAMOVA Teodora GUERGUELTCHEVA Velina KORNGUT Lawrence CAMPBELL Craig YI Dai BARIŠIĆ Nina KOS Tea BRABEC Petr RAHBEK Jes LAHDETIE Jaana TUFFERY-GIRAUD Sylvie CLAUSTRES Mireille LETURCQ France YAOU Rabah Ben WALTER Maggie C. SCHREIBER Olivia KARCAGI Veronika HERCZEGFALVI Agnes VISWANATHAN Venkatarman BAYAT Farhad SARMIENTO Isis de la caridad Guerr AMBROSINI Anna CERADINI Francesca KIMURA En BERGEN Janneke C. van den RODRIGUES Miriam ROXBURGH Richard LUSAKOWSKA Anna OLIVEIRA Jorge SANTOS Rosário NEAGU Elena BUTOIANU Niculina ARTEMIEVA Svetlana RASIC Vedrana Milic POSADA Manuel PALAU Francesc LINDVALL Björn BLOETZER Clemens KARADUMAN Ayse TOPALOGLU Haluk INAL Serap OFLAZER Piraye STRINGER Angela SHATILLO Andriy V. MARTIN Ann S. PEAY Holly FLANIGAN Kevin M. SALGADO David REKOWSKI Brigitta von LYNN Stephen HESLOP Emma GAINOTTI Sabina TARUSCIO Domenica KIRSCHNER Jan VERSCHUUREN Jan BUSHBY Kate BÉROUD Christophe LOCHMÜLLER Hanns
Year of publication	2013
Type	Article in Periodical
Magazine / Source	Human Mutation
MU Faculty or unit	Faculty of Medicine
Citation
Doi	http://dx.doi.org/10.1002/humu.22390
Field	Neurology, neurosurgery, neurosciences
Keywords	Disease registries; DMD; Duchenne muscular dystrophy; Rare disease; TREAT-NMD
Description	Duchenne muscular dystrophy (DMD) is an X-linked genetic disease, caused by the absence of the dystrophin protein. Although many novel therapies are under development for DMD, there is currently no cure and affected individuals are often confined to a wheelchair by their teens and die in their twenties/thirties. DMD is a rare disease (prevalence <5/10,000). Even the largest countries do not have enough affected patients to rigorously assess novel therapies, unravel genetic complexities, and determine patient outcomes. TREAT-NMD is a worldwide network for neuromuscular diseases that provides an infrastructure to support the delivery of promising new therapies for patients. The harmonized implementation of national and ultimately global patient registries has been central to the success of TREAT-NMD. For the DMD registries within TREAT-NMD, individual countries have chosen to collect patient information in the form of standardized patient registries to increase the overall patient population on which clinical outcomes and new technologies can be assessed. The registries comprise more than 13,500 patients from 31 different countries. Here, we describe how the TREAT-NMD national patient registries for DMD were established. We look at their continued growth and assess how successful they have been at fostering collaboration between academia, patient organizations, and industry.