TY - JOUR
T1 - New treatments for mitochondrial disease - No time to drop our standards
AU - Pfeffer, Gerald
AU - Horvath, Rita
AU - Klopstock, Thomas
AU - Mootha, Vamsi K.
AU - Suomalainen, Anu
AU - Koene, Saskia
AU - Hirano, Michio
AU - Zeviani, Massimo
AU - Bindoff, Laurence A.
AU - Yu-Wai-Man, Patrick
AU - Hanna, Michael
AU - Carelli, Valerio
AU - Mcfarland, Robert
AU - Majamaa, Kari
AU - Turnbull, Douglas M.
AU - Smeitink, Jan
AU - Chinnery, Patrick F.
PY - 2013/8
Y1 - 2013/8
N2 - 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.
AB - 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.
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U2 - 10.1038/nrneurol.2013.129
DO - 10.1038/nrneurol.2013.129
M3 - Article
C2 - 23817350
AN - SCOPUS:84881375649
VL - 9
SP - 474
EP - 481
JO - Nature Reviews Neurology
JF - Nature Reviews Neurology
SN - 1759-4758
IS - 8
ER -