Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy.
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.
John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Volker
V
Straub
European Medicines Agency, Human Medicines Evaluation Division, Scientific and Regulatory Management Department, CNS and Ophthalmology Office, London, UK.
Pavel
P
Balabanov
John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Kate
K
Bushby
John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Monica
M
Ensini
Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium.
Nathalie
N
Goemans
Unit of Pharmacology, Department of Pharmacy-Drug Sciences, University of Bari, Bari, Italy.
Annamaria
A
De Luca
Duchenne Parent Project, Madrid, Spain.
Alejandra
A
Pereda
Medicines and Healthcare Product Regulatory Agency, London, UK.
Robert
R
Hemmings
BioMarin Pharmaceutical, Developmental Sciences, Novato, CA, USA.
Giles
G
Campion
Sarepta Therapeutics, Cambridge, MA, USA.
Edward
E
Kaye
Neuromuscular Disorders Group, BioCruces Health Research Institute, Barakaldo, Spain.
Virginia
V
Arechavala-Gomeza
Université de Versailles Saint Quentin en Yvelines, Inserm U1179, Montigny le Bretonneux, France.
Aurelie
A
Goyenvalle
Leiden University Medical Center, Leiden, Netherlands.
Erik
E
Niks
John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Olav
O
Veldhuizen
Parent Project Muscular Dystrophy, Hackensack, NJ, USA.
Pat
P
Furlong
Medicines Evaluation Board, Utrecht, Netherlands.
Violeta
V
Stoyanova-Beninska
Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.
Matthew J
MJ
Wood
Joining Jack, Wigan, UK.
Alex
A
Johnson
Pediatric Neurology, Catholic University, Rome, Italy.
Eugenio
E
Mercuri
Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Diseases, University College London Institute of Child Health and Great Ormond Street Hospital, London, UK.
Francesco
F
Muntoni
Faculdade de Farmácia, Universidade de Lisboa, Lisbon, Portugal.
Bruno
B
Sepodes
European Medicines Agency, Human Medicines Evaluation Division, Scientific and Regulatory Management Department, CNS and Ophthalmology Office, London, UK.
Manuel
M
Haas
United Parent Projects Muscular Dystrophy, Amsterdam, Netherlands.
Elizabeth
E
Vroom
John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK; Leiden University Medical Center, Leiden, Netherlands. Electronic address: a.m.rus@lumc.nl.
Annemieke
A
Aartsma-Rus
D017277:Drug Approval; D015316:Genetic Therapy; D006801:Humans; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics / Q000628:therapy*; D009965:Orphan Drug Production; D017063:Outcome Assessment, Health Care; D055818:Public-Private Sector Partnerships