title: [Therapeutic development for GNE myopathy.]
abstract: GNE myopathy is rare muscle disease which affect distal muscles. GNE gene, which encodes for a key enzyme in the sialic acid biosynthesis pathway, is mutated in the homozygote or compound heterozygote in the disease. The lack of sialic acid in skeletal muscle is the critical pathological process in GNE myopathy. GNE myopathy model mouse was established and supplementation of sialic acid improves the phenotype of model mouse. Phase Ⅰ clinical trial was conducted at Tohoku University Hospital using aceneuramic acid, followed by the trials using slow release product of sialic acid. Phase Ⅱ/Ⅲ study is ongoing.
authors.affiliation: Tohoku University Graduate School of Medicine, Japan.
authors.forename: Naoki
authors.initials: N
authors.lastname: Suzuki
authors.affiliation: Tohoku University Graduate School of Medicine, Japan.
authors.forename: Rumiko
authors.initials: R
authors.lastname: Izumi
authors.affiliation: Tohoku University Graduate School of Medicine, Japan.
authors.forename: Masaaki
authors.initials: M
authors.lastname: Kato
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Warita
authors.forename: Masashi
authors.initials: M
authors.lastname: Aoki
mesh_terms: D002986:Clinical Trials as Topic; D049310:Distal Myopathies / Q000175:diagnosis / Q000188:drug therapy* / Q000453:epidemiology / Q000473:pathology; D006801:Humans; D019158:N-Acetylneuraminic Acid / Q000627:therapeutic use; D011379:Prognosis
chemical_list: D019158:N-Acetylneuraminic Acid