The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia

Catherine Bladen , Karen Rafferty , Volker Straub (1) , Soledad Monges (2) , Angélica Moresco , Hugh Dawkins (3) , Anna Roy , Teodora Chamova , Velina Guergueltcheva , Lawrence Korngut , Craig Campbell , Yi Dai , Nina Barišić , Tea Kos , Petr Brabec , Jes Rahbek , Jaana Lahdetie , Sylvie Tuffery-Giraud (4) , Mireille Claustres (4) , France Leturcq (5) , Rabah Ben Yaou (6) , Maggie C Walter (7) , Olivia Schreiber , Veronika Karcagi , Agnes Herczegfalvi , Venkatarman Viswanathan , Farhad Bayat , Isis de La Caridad Guerrero Sarmiento , Anna Ambrosini , Francesc Ceradini , En Kimura , Jan van den Bergen , Miriam Rodrigues , Richard Roxburgh , Anna Lusakowska (8) , Jorge Oliveira , Rosário Santos , Elena Neagu , Niculina Butoianu , Svetlana Artemieva , Vedrana Milic Rasic , Manuel Posada (9) , Francesc Palau (10) , Björn Lindvall , Clemens Bloetzer , Ayşe Karaduman , Haluk Topaloğlu , Serap Inal , Piraye Oflazer , Angela Stringer , Andriy V Shatillo , Ann S Martin , Holly Peay , Kevin M Flanigan , David Salgado (11) , Brigitta von Rekowski , Stephen Lynn , Emma Heslop (12) , Sabina Gainotti , Domenica Taruscio , Jan Kirschner , Jan Verschuuren , Kate Bushby (1) , Christophe Béroud (11) , Hanns Lochmuller (13) , Hugh Roy , France Tuffery-Giraud , France Claustres , Maggie C. Walter , Andriy V. Shatillo , Ann S. Martin , Kevin M. Flanigan

1 Department of Neurology
2 Neuropaediatrics
3 Centre for Comparative Genomics
4 LGMR - Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques
5 Service de biochimie et de génétique moléculaire [CHU Cochin]
6 Institut de Myologie
7 Department of Biological and Environmental Engineering
8 Department of Embryology [Warsaw]
9 Medicina Pediátrica y del Desarrollo
10 Genetics
11 GMGF - Génétique Médicale et Génomique Fonctionnelle
12 IMEDEA - Institut Mediterrani d'Estudis Avancats
13 Newcastle University [Newcastle]

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.

Keywords: DMD; Duchenne muscular dystrophy; TREAT-NMD; disease registries; rare disease

Domains: Computer Science [cs]; Bioinformatics [q-bio.QM]; Life Sciences [q-bio]; Genetics; Human genetics; Life Sciences [q-bio]; Biochemistry, Molecular Biology; Molecular biology

Catherine Bladen, Karen Rafferty, Volker Straub, Soledad Monges, Angélica Moresco, et al.. The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia. Human Mutation, 2013, 34 (11), pp.1449 - 1457. ⟨10.1002/humu.22390⟩. ⟨hal-01681801⟩