シンポジウム14：遺伝性筋疾患におけるトランスレーショナル・リサーチ
GNEミオパチーの治療法開発
キーワード:
GNE myopathy,
distal myopathy with rimmed vacuoles,
N–acetylneuraminic acid (NeuAc),
clinical trial
2020 年 37 巻 4 号 p. 656-660
詳細
2020 年 37 巻 4 号 p. 656-660
GNE myopathy is rare muscle disease affecting distal muscles like tibialis anterior. GNE gene, which encodes for a key enzyme in the sialic acid biosynthesis pathway, is mutated in the homozygote or compound heterozygote manner. The lack of sialic acid in skeletal muscle is the critical pathological process in GNE myopathy. GNE myopathy mouse model was established and supplementation of sialic acid improves the phenotype of these models. Phase 1 clinical trial in Japan was conducted at Tohoku University Hospital using aceneuramic acid, followed by the trials using slow release product of sialic acid. Phase II/III study was performed.
