The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

Catherine L Bladen, Karen Rafferty, Volker Straub, Soledad Monges, Angelica Moresco, Hugh Dawkins, Anna Roy, Teodora Chamova, Velina Guergueltcheva, Lawrence Korngut, Craig Campbell, Yi Dai, Nina Barisic, Tea Kos, Petr Brabec, Jes Rahbek, Jaana Lahdetie, Sylvie Tuffery-Giraud, Mireille Claustres, France LeturcqRabah Ben Yaou, Maggie C Walter, Olivia Schreiber, Veronika Karcagi, Agnes Herczegfalvi, Venkatarman Viswanathan, Farhad Bayat, Isis de la caridad Guerrero Sarmiento, Anna Ambrosini, Francesca Ceradini, En Kimura, Janneke C van den Bergen, Miriam Rodrigues, Richard Roxburgh, Anna Lusakowska, Jorge Oliveira, Rosario Santos, Elena Neagu, Niculina Butoianu, Svetlana Artemieva, Vedrana M Rasic, Manuel Posada, Francesc Palau, Bjorn Lindvall, Clemens Bloetzer, Ayse Karaduman, Haluk Topaloglu, Serap Inal, Piraye Oflazer, Angela Stringer, Andriy V Shatillo, Ann S Martin, Holly Peay, Kevin M Flanigan, David Salgado, Brigitta von Rekoswki, Stephen Lynn, Emma Heslop, Sabina Gainotti, Domenica Taruscio, Jan Kirschner, Jan Verschuuren, Kate Bushby, Christophe Beroud, Hanns Lochmuller

Research output: Contribution to journalArticleResearchpeer-review

78 Citations (Scopus)

Abstract

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
Original languageEnglish
Pages (from-to)1449 - 1457
Number of pages9
JournalHuman Mutation
Volume34
Issue number11
DOIs
Publication statusPublished - 2013

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