Sialic acid supplementation therapy for GNE myopathy

Abstract

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.