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

Catherine Bladen; Karen Rafferty; Volker Straub; Soledad Monges; Angélica Moresco; Hugh Dawkins; 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; Mireille Claustres; France Leturcq; Rabah Ben Yaou; Maggie C Walter; 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; Jorge Oliveira; Rosário Santos; Elena Neagu; Niculina Butoianu; Svetlana Artemieva; Vedrana Milic Rasic; Manuel Posada; Francesc Palau; 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; Brigitta von Rekowski; Stephen Lynn; Emma Heslop; Sabina Gainotti; Domenica Taruscio; Jan Kirschner; Jan Verschuuren; Kate Bushby; Christophe Béroud; Hanns Lochmuller; Hugh Roy; France Tuffery-Giraud; France Claustres; Maggie C. Walter; Andriy V. Shatillo; Ann S. Martin; Kevin M. Flanigan

doi:10.1002/humu.22390

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

Journal article

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

Catherine Bladen, Karen Rafferty, Volker Straub, Soledad Monges, Angélica Moresco, Hugh Dawkins, Anna Roy, Teodora Chamova, Velina Guergueltcheva, Lawrence Korngut, …

Human Mutation, Vol.34(11), pp.1449 - 1457

11/2013

DOI: https://doi.org/10.1002/humu.22390

PMID: 23913485

Abstract

DMD

Duchenne muscular dystrophy

TREAT-NMD

disease registries

rare disease

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.

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Title: The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia
Creators - without role: Catherine Bladen - Centre for Life
Karen Rafferty - Centre for Life
Volker Straub - Centre for Life
Soledad Monges - Garrahan Hospital
Angélica Moresco - Garrahan Hospital
Hugh Dawkins - Genomics
Anna Roy - Institut Scientifique de Santé Publique
Teodora Chamova - Medical University of Sofia
Velina Guergueltcheva - Medical University of Sofia
Lawrence Korngut - Health Sciences Centre
Craig Campbell - Western University
Yi Dai - Chinese Academy of Medical Sciences & Peking Union Medical College
Nina Barišić - University of Zagreb
Tea Kos - University Hospital Centre Zagreb
Petr Brabec - Masaryk University
Jes Rahbek
Jaana Lahdetie - Turku University Hospital
Sylvie Tuffery-Giraud - Université de Montpellier, Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
Mireille Claustres - Université de Montpellier, Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
France Leturcq - Hôpital Cochin
Rabah Ben Yaou - Hôpital Cochin
Maggie C Walter - Ludwig-Maximilians-Universität München
Olivia Schreiber - Ludwig-Maximilians-Universität München
Veronika Karcagi - Orszagos Kornyezetegeszsegugyi Intezet
Agnes Herczegfalvi - Orszagos Kornyezetegeszsegugyi Intezet
Venkatarman Viswanathan - Kanchi Kamakoti CHILDS Trust Hospital
Farhad Bayat - Pasteur Institute of Iran
Isis de La Caridad Guerrero Sarmiento - Pasteur Institute of Iran
Anna Ambrosini - Telethon Foundation
Francesc Ceradini
En Kimura - National Center of Neurology and Psychiatry
Jan van den Bergen - Leiden University Medical Center
Miriam Rodrigues - Auckland City Hospital
Richard Roxburgh - Auckland City Hospital
Anna Lusakowska - Department of Embryology
Jorge Oliveira - Centro de Genética Clínica
Rosário Santos - Centro de Genética Clínica
Elena Neagu - Clinical Emergency Hospital Bucharest
Niculina Butoianu - Clinical Emergency Hospital Bucharest
Svetlana Artemieva
Vedrana Milic Rasic - Centar za Promociju Nauke
Manuel Posada - Medicina
Francesc Palau - Genetics
Björn Lindvall - Örebro University Hospital
Clemens Bloetzer - University of Lausanne
Ayşe Karaduman - Hacettepe University
Haluk Topaloğlu - Hacettepe University
Serap Inal - Istanbul University
Piraye Oflazer - Istanbul University
Angela Stringer
Andriy V Shatillo - Institute of Neurology, Psychiatry and Narcology
Ann S Martin
Holly Peay
Kevin M Flanigan - Nationwide Children's Hospital
David Salgado - Aix-Marseille Université
Brigitta von Rekowski - Centre for Life
Stephen Lynn - Centre for Life
Emma Heslop - Centre for Life
Sabina Gainotti - Istituto Superiore di Sanità
Domenica Taruscio - Istituto Superiore di Sanità
Jan Kirschner
Jan Verschuuren
Kate Bushby - Centre for Life
Christophe Béroud - Aix-Marseille Université
Hanns Lochmuller - Centre for Life
Hugh Roy
France Tuffery-Giraud
France Claustres
Maggie C. Walter - Ludwig-Maximilians-Universität München
Andriy V. Shatillo - Institute of Neurology, Psychiatry and Narcology
Ann S. Martin
Kevin M. Flanigan - Nationwide Children's Hospital
Publication Details: Human Mutation, Vol.34(11), pp.1449 - 1457
Identifiers: 9936419109311
Academic Unit: Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
Language: English
Resource Type: Journal article
Local Fields: hal-01681801