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New treatments for mitochondrial disease - no time to drop our standards

Lookup NU author(s): Dr Gerald Pfeffer, Professor Rita HorvathORCiD, Professor Laurence Bindoff, Dr Patrick Yu Wai Man, Professor Michael Hanna, Professor Bobby McFarlandORCiD, Emeritus Professor Doug Turnbull, Professor Patrick Chinnery


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Mitochondrial dysfunction is a common cause of inherited multisystem disease that often involves the nervous system. Despite major advances in our understanding of the pathophysiology of mitochondrial diseases, clinical management of these conditions remains largely supportive. Using a systematic approach, we identified 1,039 publications on treatments for mitochondrial diseases, only 35 of which included observations on more than five patients. Reports of a positive outcome on the basis of a biomarker of unproven clinical significance were more common in nonrandomized and nonblinded studies, suggesting a publication bias toward positive but poorly executed studies. Although trial design is improving, there is a critical need to develop new biomarkers of mitochondrial disease. In this Perspectives article, we make recommendations for the design of future treatment trials in mitochondrial diseases. Patients and physicians should no longer rely on potentially biased data, with the associated costs and risks.

Publication metadata

Author(s): Pfeffer G, Horvath R, Klopstock T, Mootha VK, Suomalainen A, Koene S, Hirano M, Zeviani M, Bindoff LA, Yu-Wai-Man P, Hanna M, Carelli V, McFarland R, Majamaa K, Turnbull DM, Smeitink J, Chinnery PF

Publication type: Article

Publication status: Published

Journal: Nature Reviews Neurology

Year: 2013

Volume: 9

Issue: 8

Pages: 474-481

Print publication date: 01/08/2013

ISSN (print): 1759-4758

ISSN (electronic): 1759-4766

Publisher: Nature Publishing Group


DOI: 10.1038/nrneurol.2013.129


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Funder referenceFunder name
Marriott Foundation
Sigrid Juselius Foundation
ZonMW PM Rare
Canadian Institutes of Health Research
Jane and Atos Erkko Foundation
Medical Research Council (UK) Centre for Translational Research in Neuromuscular Diseases
NIHR Newcastle Biomedical Research Centre based at Newcastle upon Tyne Hospital Newcastle University
NIHR Newcastle Biomedical Research Centre based at Newcastle upon Tyne Hospital NHS Foundation Trust
01E00901BMBF (German Centre for Vertigo and Balance Disorders)
01GM1113AGerman Federal Ministry of Education and Research (BMBF)
096919Z/11/ZWellcome Trust Centre for Mitochondrial Research
277984European Commission Seventh Framework Programme (FP7, HEALTH-F2-2011)
853.00.130Dutch Science Organisation (NWO) CSBR Program
ESTAR 11205Eurostars Programme
GPP10005Telethon Italy