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

Catherine L. 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 LeturcqRabah Ben Yaou, Maggie C. Walter, Olivia Schreiber, V. 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, Rosário Santos, Elena Neagu, Niculina Butoianu, Svetlana Artemieva, Vedrana Milic Rasic, Manuel Posada, Francesc Palau, Björn Lindvall, Clemens Bloetzer, Ayşe Karaduman, Haluk Topaloǧlu, 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 Lochmüller

Research output: Contribution to journalArticle

69 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 - Nov 2013

Fingerprint

Duchenne Muscular Dystrophy
Registries
Industry
X-Linked Genetic Diseases
Dystrophin
Wheelchairs
Rare Diseases
Proteins
Therapeutics

Keywords

  • Disease registries
  • DMD
  • Duchenne muscular dystrophy
  • Rare disease
  • TREAT-NMD

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Bladen, C. L., Rafferty, K., Straub, V., Monges, S., Moresco, A., Dawkins, H., ... Lochmüller, H. (2013). The TREAT-NMD duchenne muscular dystrophy registries: Conception, design, and utilization by industry and academia. Human Mutation, 34(11), 1449-1457. https://doi.org/10.1002/humu.22390

The TREAT-NMD duchenne muscular dystrophy registries : Conception, design, and utilization by industry and academia. / Bladen, Catherine L.; Rafferty, Karen; Straub, Volker; Monges, Soledad; Moresco, Angélica; Dawkins, Hugh; Roy, Anna; Chamova, Teodora; Guergueltcheva, Velina; Korngut, Lawrence; Campbell, Craig; Dai, Yi; Barišić, Nina; Kos, Tea; Brabec, Petr; Rahbek, Jes; Lahdetie, Jaana; Tuffery-Giraud, Sylvie; Claustres, Mireille; Leturcq, France; Ben Yaou, Rabah; Walter, Maggie C.; Schreiber, Olivia; Karcagi, V.; Herczegfalvi, Agnes; Viswanathan, Venkatarman; Bayat, Farhad; de la caridad Guerrero Sarmiento, Isis; Ambrosini, Anna; Ceradini, Francesca; Kimura, En; van den Bergen, Janneke C.; 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, Ayşe; Topaloǧlu, Haluk; Inal, Serap; Oflazer, Piraye; Stringer, Angela; Shatillo, Andriy V.; Martin, Ann S.; Peay, Holly; Flanigan, Kevin M.; Salgado, David; von Rekowski, Brigitta; Lynn, Stephen; Heslop, Emma; Gainotti, Sabina; Taruscio, Domenica; Kirschner, Jan; Verschuuren, Jan; Bushby, Kate; Béroud, Christophe; Lochmüller, Hanns.

In: Human Mutation, Vol. 34, No. 11, 11.2013, p. 1449-1457.

Research output: Contribution to journalArticle

Bladen, CL, Rafferty, K, Straub, V, Monges, S, Moresco, A, Dawkins, H, Roy, A, Chamova, T, Guergueltcheva, V, Korngut, L, Campbell, C, Dai, Y, Barišić, N, Kos, T, Brabec, P, Rahbek, J, Lahdetie, J, Tuffery-Giraud, S, Claustres, M, Leturcq, F, Ben Yaou, R, Walter, MC, Schreiber, O, Karcagi, V, Herczegfalvi, A, Viswanathan, V, Bayat, F, de la caridad Guerrero Sarmiento, I, Ambrosini, A, Ceradini, F, Kimura, E, van den Bergen, JC, Rodrigues, M, Roxburgh, R, Lusakowska, A, Oliveira, J, Santos, R, Neagu, E, Butoianu, N, Artemieva, S, Rasic, VM, Posada, M, Palau, F, Lindvall, B, Bloetzer, C, Karaduman, A, Topaloǧlu, H, Inal, S, Oflazer, P, Stringer, A, Shatillo, AV, Martin, AS, Peay, H, Flanigan, KM, Salgado, D, von Rekowski, B, Lynn, S, Heslop, E, Gainotti, S, Taruscio, D, Kirschner, J, Verschuuren, J, Bushby, K, Béroud, C & Lochmüller, H 2013, 'The TREAT-NMD duchenne muscular dystrophy registries: Conception, design, and utilization by industry and academia', Human Mutation, vol. 34, no. 11, pp. 1449-1457. https://doi.org/10.1002/humu.22390
Bladen, Catherine L. ; Rafferty, Karen ; Straub, Volker ; Monges, Soledad ; Moresco, Angélica ; Dawkins, Hugh ; Roy, Anna ; Chamova, Teodora ; Guergueltcheva, Velina ; Korngut, Lawrence ; Campbell, Craig ; Dai, Yi ; Barišić, Nina ; Kos, Tea ; Brabec, Petr ; Rahbek, Jes ; Lahdetie, Jaana ; Tuffery-Giraud, Sylvie ; Claustres, Mireille ; Leturcq, France ; Ben Yaou, Rabah ; Walter, Maggie C. ; Schreiber, Olivia ; Karcagi, V. ; Herczegfalvi, Agnes ; Viswanathan, Venkatarman ; Bayat, Farhad ; de la caridad Guerrero Sarmiento, Isis ; Ambrosini, Anna ; Ceradini, Francesca ; Kimura, En ; van den Bergen, Janneke C. ; 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, Ayşe ; Topaloǧlu, Haluk ; Inal, Serap ; Oflazer, Piraye ; Stringer, Angela ; Shatillo, Andriy V. ; Martin, Ann S. ; Peay, Holly ; Flanigan, Kevin M. ; Salgado, David ; von Rekowski, Brigitta ; Lynn, Stephen ; Heslop, Emma ; Gainotti, Sabina ; Taruscio, Domenica ; Kirschner, Jan ; Verschuuren, Jan ; Bushby, Kate ; Béroud, Christophe ; Lochmüller, Hanns. / The TREAT-NMD duchenne muscular dystrophy registries : Conception, design, and utilization by industry and academia. In: Human Mutation. 2013 ; Vol. 34, No. 11. pp. 1449-1457.
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