原发性线粒体肌病的研究进展。
Advances in primary mitochondrial myopathies.
机构信息
Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
出版信息
Curr Opin Neurol. 2019 Oct;32(5):715-721. doi: 10.1097/WCO.0000000000000743.
PURPOSE OF REVIEW
Although mitochondrial diseases impose a significant functional limitation in the lives of patients, treatment of these conditions has been limited to dietary supplements, exercise, and physical therapy. In the past few years, however, translational medicine has identified potential therapies for these patients.
RECENT FINDINGS
For patients with primary mitochondrial myopathies, preliminary phase I and II multicenter clinical trials of elamipretide indicate safety and suggest improvement in 6-min walk test (6MWT) performance and fatigue scales. In addition, for thymidine kinase 2-deficient (TK2d) myopathy, compassionate-use oral administration of pyrimidine deoxynucleosides have shown preliminary evidence of safety and efficacy in survival of early onset patients and motor functions relative to historical TK2d controls.
SUMMARY
The prospects of effective therapies that improve the quality of life for patients with mitochondrial myopathy underscore the necessity for definitive diagnoses natural history studies for better understanding of the diseases.
目的综述
尽管线粒体疾病严重限制了患者的生活功能，但目前这些疾病的治疗方法仅限于饮食补充、运动和物理治疗。然而，在过去的几年中，转化医学已经为这些患者确定了潜在的治疗方法。
最近的发现
对于原发性线粒体肌病患者，初步的 I 期和 II 期多中心临床试验表明，Elamipretide 具有安全性，并表明 6 分钟步行试验（6MWT）表现和疲劳量表的改善。此外，对于胸苷激酶 2 缺乏（TK2d）肌病，同情使用嘧啶脱氧核苷口服治疗在早期发病患者的生存和运动功能方面相对于历史 TK2d 对照组具有初步的安全性和疗效证据。
总结
有效的治疗方法有望改善线粒体肌病患者的生活质量，这突显了明确诊断和自然史研究的必要性，以便更好地了解这些疾病。
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