Medicines Authority, San Ġwann, Malta.
Department of Pharmacy, Faculty of Medicine and Surgery, University of Malta, Msida, Malta.
Eur J Ophthalmol. 2020 Nov;30(6):1220-1227. doi: 10.1177/1120672120936592. Epub 2020 Jun 19.
Leber's hereditary optic neuropathy (LHON) is a rare, maternally-inherited optic neuropathy caused by mitochondrial DNA point mutations and which can cause blindness. Currently, Raxone (idebenone) is the only available medicinal product authorised to treat LHON within the European Union and LHON remains an unmet medical need. The aim of this article was to summarise interventional clinical trials published over the past 5 years (between 2014 and 2019) with the primary purpose of treating LHON. Therapeutic approaches discussed include modulating agents of the mitochondrial electron transport chain such as Raxone, cysteamine bitartrate and KH176, inhibitors of apoptosis such as elamipretide, gene therapy medicinal products such as GS010 and scAAV2P1ND4 and retinal tissue regeneration medicinal products such as bone marrow-derived stem cells.
Leber 遗传性视神经病变(LHON)是一种罕见的母系遗传性视神经病变,由线粒体 DNA 点突变引起,并可导致失明。目前,Raxone(艾地苯醌)是唯一在欧盟获准用于治疗 LHON 的药物,而 LHON 仍然是一种未满足的医疗需求。本文旨在总结过去 5 年(2014 年至 2019 年)发表的干预性临床试验,这些试验的主要目的是治疗 LHON。讨论的治疗方法包括调节线粒体电子传递链的调节剂,如 Raxone、半胱氨酸丁二酸盐和 KH176,凋亡抑制剂,如 elamipretide,基因治疗药物,如 GS010 和 scAAV2P1ND4,以及视网膜组织再生药物,如骨髓源性干细胞。