source: The Lancet. Neurology
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
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.
Newcastle University, UK; CNS and Ophthalmology Office, UK; University Hospitals Leuven, Belgium; University of Bari, Italy; Duchenne Parent Project, Spain; Medicines and Healthcare Product Regulatory Agency, UK; BioMarin Pharmaceutical, USA; Sarepta Therapeutics, USA; BioCruces Health Research Institute, Spain; Université de Versailles Saint Quentin en Yvelines, France; Leiden University Medical Center, Netherlands; Parent Project Muscular Dystrophy, USA; Medicines Evaluation Board, Netherlands; University of Oxford, UK; Joining Jack, UK; Catholic University, Italy; University College London Institute of Child Health and Great Ormond Street Hospital, UK; Universidade de Lisboa, Portugal; United Parent Projects Muscular Dystrophy, Netherlands
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