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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.
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
URL: http://dx.doi.org/10.1038/nrneurol.2013.129
DOI: 10.1038/nrneurol.2013.129
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