[Sialic Acid Replacement Therapy for Distal Myopathy with Rimmed Vacuoles].
Distal myopathy with rimmed vacuoles or GNE myopathy, is an early adult-onset myopathy with slow progression that preferentially affects the tibialis anterior muscle. Severely affected patients show marked limb muscle atrophy together with respiratory dysfunction. The disease is caused by a mutation in the GNE gene that catalyzes two rate-limiting reactions in cytosolic sialic acid synthesis. Oral treatment with sialic acid metabolite prevents muscle atrophy and weakness in a mouse GNE myopathy model and a global Phase III study is currently underway. In addition, a global patient registry of neuromuscular cases is widely accepted as a useful tool to obtain epidemiological data and bolster patient recruitment for further development of this treatment strategy.
Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry.
Madoka
M
Mori-Yoshimura
Ichizo
I
Nishino
D000818:Animals; D004195:Disease Models, Animal; D049310:Distal Myopathies / Q000175:diagnosis / Q000188:drug therapy* / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology*; D019158:N-Acetylneuraminic Acid / Q000627:therapeutic use*; D016896:Treatment Outcome; D014617:Vacuoles / Q000235:genetics* / Q000378:metabolism
D019158:N-Acetylneuraminic Acid