New treatments for mitochondrial disease-no time to drop our standards.
New treatments for mitochondrial disease-no time to drop our standards.
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DOI：
10.1038/nrneurol.2013.129
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发表时间：
2013-08
期刊：
影响因子：
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通讯作者：
Chinnery PF
中科院分区：
文献类型：
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作者：
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
线粒体功能障碍是遗传性多系统疾病的常见原因，通常涉及神经系统。尽管我们对线粒体疾病的病理生理学的理解取得了重大进展，但这些疾病的临床管理仍在很大程度上得到支持。使用系统方法，我们确定了1，039篇关于线粒体疾病治疗的出版物，其中只有35篇包括对5名以上患者的观察。基于未经证实的临床意义的生物标志物的阳性结果报告在非随机和非盲研究中更常见，表明对阳性但执行不佳的研究存在出版偏倚。虽然试验设计正在改进，但迫切需要开发新的线粒体疾病生物标志物。在这篇展望文章中，我们为线粒体疾病未来治疗试验的设计提出了建议。患者和医生不应再依赖可能存在偏见的数据，以及相关的成本和风险。
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.