[Sialic Acid Replacement Therapy for Distal Myopathy with Rimmed Vacuoles].

Abstract

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.

• Authors: Madoka Mori-Yoshimura, Ichizo Nishino
• Journal: Brain and nerve = Shinkei kenkyu no shinpo (Brain Nerve) Vol. 67 Issue 9 Pg. 1115-23 (Sep 2015) ISSN: 1881-6096 [Print] Japan
• PMID: 26329152 (Publication Type: English Abstract, Journal Article, Review)

Chemical References

• N-Acetylneuraminic Acid

Topics

• Animals
• Disease Models, Animal
• Distal Myopathies (diagnosis, drug therapy, epidemiology, genetics)
• Humans
• Muscle, Skeletal (pathology)
• N-Acetylneuraminic Acid (therapeutic use)
• Treatment Outcome
• Vacuoles (genetics, metabolism)