Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Department of Neurology & Pediatrics, University of Pennsylvania, Philadelphia, PA 19104, USA.
Neurodegener Dis Manag. 2021 Apr;11(2):91-98. doi: 10.2217/nmt-2020-0057. Epub 2021 Jan 12.
Friedreich ataxia is a slowly progressive neurodegenerative disorder leading to ataxia, dyscoordination, dysarthria and in many individuals vision and hearing loss. It is associated with cardiomyopathy, the leading cause of death in Friedreich ataxia (FRDA), diabetes and scoliosis. There are no approved therapies, but elucidation of the pathophysiology of FRDA suggest that agents that increase the activity of the transcription factor Nrf2 may provide a mechanism for ameliorating disease progression or severity. In this work, we review the evidence for use of omaveloxolone in FRDA from recent clinical trials. Though not at present approved for any indication, the present data suggest that this agent acting though increases in Nrf2 activity may provide a novel therapy for FRDA.
弗里德里希共济失调是一种进行性神经退行性疾病，导致共济失调、协调障碍、构音障碍，在许多患者中还会导致视力和听力丧失。它与扩张型心肌病有关，扩张型心肌病是弗里德里希共济失调（FRDA）的主要死因，还与糖尿病和脊柱侧凸有关。目前尚无批准的治疗方法，但 FRDA 的病理生理学阐明表明，增加转录因子 Nrf2 活性的药物可能为改善疾病进展或严重程度提供一种机制。在这项工作中，我们回顾了最近临床试验中使用 omaveloxolone 治疗 FRDA 的证据。虽然目前尚未批准用于任何适应症，但现有数据表明，这种通过增加 Nrf2 活性起作用的药物可能为 FRDA 提供一种新的治疗方法。
