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

被引：72

作者：

Straub, Volker ^{[1
,2
]}

Balabanov, Pavel ^{[3
]}

Bushby, Kate ^{[1
,2
]}

Ensini, Monica ^{[1
,2
]}

Goemans, Nathalie ^{[4
]}

De Luca, Annamaria ^{[5
]}

Pereda, Alejandra ^{[6
]}

Hemmings, Robert ^{[7
]}

Campion, Giles ^{[8
]}

Kaye, Edward ^{[9
]}

Arechavala-Gomeza, Virginia ^{[10
]}

Goyenvalle, Aurelie ^{[11
]}

Niks, Erik ^{[12
]}

Veldhuizen, Olav ^{[1
,2
]}

Furlong, Pat ^{[13
]}

Stoyanova-Beninska, Violeta ^{[14
]}

Wood, Matthew J. ^{[15
]}

Johnson, Alex ^{[16
]}

Mercuri, Eugenio ^{[17
]}

Muntoni, Francesco ^{[18
,19
,20
]}

Sepodes, Bruno ^{[21
]}

Haas, Manuel ^{[3
]}

Vroom, Elizabeth ^{[22
]}

Aartsma-Rus, Annemieke ^{[1
,12
]}

机构：

[1] Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[2] Newcastle Univ, MRC Ctr Neuromuscular Dis, Inst Med Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[3] European Medicines Agcy, Human Medicines Evaluat Div, Sci & Regulatory Management Dept, CNS & Ophthalmol Off, London, England

[4] Univ Hosp Leuven, Dept Child Neurol, Leuven, Belgium

[5] Univ Bari, Dept Pharmacy Drug Sci, Pharmacol Unit, Bari, Italy

[6] Duchenne Parent Project, Madrid, Spain

[7] Med & Healthcare Prod Regulatory Agcy, London, England

[8] BioMarin Pharmaceut, Dev Sci, Novato, CA USA

[9] Sarepta Therapeut, Cambridge, MA USA

[10] BioCruces Hlth Res Inst, Neuromuscular Disorders Grp, Baracaldo, Spain

[11] Univ Versailles St Quentin Yvelines, INSERM, U1179, Montigny Le Bretonneux, France

[12] Univ Med Ctr, Leiden, Netherlands

[13] Parent Project Muscular Dystrophy, Hackensack, NJ USA

[14] Med Evaluat Board, Utrecht, Netherlands

[15] Univ Oxford, Dept Physiol Anat & Genet, Oxford, England

[16] JoiningJack, Wigan, England

[17] Univ Cattolica Sacro Cuore, Pediat Neurol, I-00168 Rome, Italy

[18] UCL, Dubowitz Neuromuscular Ctr, Inst Child Hlth, London, England

[19] UCL, MRC Ctr Neuromuscular Dis, Inst Child Hlth, London, England

[20] Great Ormond St Hosp Sick Children, London, England

[21] Univ Lisbon, Fac Farm, P-1699 Lisbon, Portugal

[22] United Parent Projects Muscular Dystrophy, Amsterdam, Netherlands

来源：

LANCET NEUROLOGY | 2016年 / 15卷 / 08期

关键词：

ENMC INTERNATIONAL WORKSHOP; 6-MINUTE WALK TEST; NATURAL-HISTORY; DISEASE PROGRESSION; CLINICAL-RESEARCH; END-POINTS; BOYS; CARE; BIOMARKERS; CORTICOSTEROIDS;

D O I：

10.1016/S1474-4422(16)30035-7

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

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.

引用

页码：882 / 890

页数：9

共 76 条

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