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

Gerald Pfeffer, Rita Horvath, Thomas Klopstock, Vamsi K. Mootha, Anu Suomalainen, Saskia Koene, Michio Hirano, Massimo Zeviani, Laurence A. Bindoff, Patrick Yu-Wai-Man, Michael Hanna, Valerio Carelli, Robert Mcfarland, Kari Majamaa, Douglas M. Turnbull, Jan Smeitink, Patrick F. Chinnery

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)474-481
Number of pages8
JournalNature Reviews Neurology
Issue number8
Publication statusPublished - Aug 2013

ASJC Scopus subject areas

  • Clinical Neurology
  • Cellular and Molecular Neuroscience


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