The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia - Aix-Marseille Université Access content directly
Journal Articles Human Mutation Year : 2013

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

Catherine Bladen
  • Function : Author
Karen Rafferty
  • Function : Author
Volker Straub
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  • PersonId : 915050
Soledad Monges
  • Function : Author
Angélica Moresco
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Hugh Dawkins
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  • PersonId : 947543
Anna Roy
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Teodora Chamova
  • Function : Author
Velina Guergueltcheva
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Lawrence Korngut
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Craig Campbell
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Yi Dai
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Nina Barišić
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Tea Kos
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Petr Brabec
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Jes Rahbek
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Jaana Lahdetie
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Rabah Ben Yaou
Olivia Schreiber
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Veronika Karcagi
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Agnes Herczegfalvi
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Venkatarman Viswanathan
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Farhad Bayat
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Anna Ambrosini
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Francesc Ceradini
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En Kimura
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Jan van den Bergen
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Miriam Rodrigues
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Richard Roxburgh
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Anna Lusakowska
Jorge Oliveira
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Rosário Santos
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Elena Neagu
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Niculina Butoianu
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Svetlana Artemieva
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Vedrana Milic Rasic
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Francesc Palau
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Björn Lindvall
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Clemens Bloetzer
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Ayşe Karaduman
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Haluk Topaloğlu
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Serap Inal
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Piraye Oflazer
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Angela Stringer
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Andriy V Shatillo
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Ann S Martin
  • Function : Author
Holly Peay
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Kevin M Flanigan
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Brigitta von Rekowski
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Stephen Lynn
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Sabina Gainotti
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Domenica Taruscio
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Jan Kirschner
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Jan Verschuuren
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Hugh Roy
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France Tuffery-Giraud
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France Claustres
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Maggie C. Walter
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Andriy V. Shatillo
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Ann S. Martin
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Kevin M. Flanigan
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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 <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.

Dates and versions

hal-01681801 , version 1 (11-01-2018)

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Cite

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⟩
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