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Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy

Lookup NU author(s): Professor Volker StraubORCiD, Emerita Professor Katherine Bushby, Dr Monica Ensini, Professor Annemieke Aartsma-Rus



This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).


Duchenne muscular dystrophy is a rare, progressive, muscle-wasting disease leading to severe disability and premature death. Treatment is currently symptomatic, but several experimental therapies are in development. Implemented care standards, validated outcome measures correlating with clinical benefit, and comprehensive information about the natural history of the disease are essential for regulatory approval of any treatment. However, for Duchenne muscular dystrophy and other rare diseases, these requirements are not always in place when potential therapies enter the clinical trial phase. A cooperative effort of stakeholders in Duchenne muscular dystrophy-including representatives from patients' groups, academia, industry, and regulatory agencies-is aimed at addressing this shortfall by identifying strategies to overcome challenges, developing the tools needed, and collecting relevant data. An open and constructive dialogue among European stakeholders has positively affected development of treatments for Duchenne muscular dystrophy; this approach could serve as a paradigm for development of treatments for rare diseases in general.

Publication metadata

Author(s): Straub V, Balabanov P, Bushby K, Ensini M, Goemans N, De Luca A, Pereda A, Hemmings R, Campion G, Kaye E, Arechavala-Gomeza V, Goyenvalle A, Niks E, Veldhuizen O, Furlong P, Stoyanova-Beninska V, Wood MJ, Johnson A, Mercuri E, Muntoni F, Sepodes B, Haas M, Vroom E, Aartsma-Rus A

Publication type: Article

Publication status: Published

Journal: Lancet Neurology

Year: 2016

Volume: 15

Issue: 8

Pages: 882-890

Print publication date: 01/07/2016

Online publication date: 06/06/2016

Acceptance date: 02/04/2016

Date deposited: 08/11/2018

ISSN (print): 1474-4422

ISSN (electronic): 1474-4465

Publisher: Elsevier


DOI: 10.1016/S1474-4422(16)30035-7


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Funder referenceFunder name
National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London
601573SCOPE-DMD project (A Consortium for Products across Europe in Duchenne Muscular Dystrophy, EU)
BM120782Cooperation of Science and Technology (COST) Action