Japanese Leigh syndrome case treated with EPI-743

Publication date: Available online 12 September 2017
Source:Brain and Development
Author(s): Takeshi Kouga, Mariko Takagi, Akihiko Miyauchi, Hiroko Shimbo, Mizue Iai, Sumimasa Yamashita, Kei Murayama, Matthew B. Klein, Guy Miller, Tomohide Goto, Hitoshi Osaka
BackgroundLeigh syndrome is a mitochondrial disease caused by respiratory chain deficiency, and there are no proven effective therapies. EPI-743 is a potent cellular oxidative stress protectant and results of clinical trials for mitochondrial diseases are accumulating.CaseAt 5months, a girl presented with the scarce eye movement and diminished muscle tone. She was diagnosed with Leigh encephalopathy from blood and cerebrospinal fluid lactate elevation and MRI findings. Sequence analysis for mitochondrial DNA revealed a T10158C mutation in the mitochondrial encoded ND3 gene in complex I.ResultsAt 8months, succinate was prescribed expected to restore the electron transport chain system. After that her condition got worse and succinate was discontinued. Subsequent administration of EPI-743 improved her eye movement, fine motor movements of the extremities, and bowel movement. She is now 5years old. Although brain atrophy has progressed, she has still respiratory free time.ConclusionOur patient showed visible improvement with EPI-743 treatment and the only patient surviving after 4years. There is a possibility that EPI-743 is modifying the natural course of the syndrome.



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