Development of Therapy for Distal Myopathy
Development supervisorMasashi Aoki
Professor, Department of Neurology, Tohoku University Graduate School of Medicine
A new therapy for rare incurable diseases and distal myopathy was developed and an investigator-initiated clinical trial was carried out for the first time in the world.
Distal myopathy with rimmed vacuoles (DMRV) is an extremely rare disease where atrophy begins in muscles separate from the body trunk. Patients with this disease have mutations in the enzyme gene called GNE, and cannot sufficiently synthesis N-acetylneuramic acid. At the Department of Neuromuscular Research, National Center of Neurology and Psychiatry, DMRV model mice were prepared and administered N-acetylneuramic acid before onset. Change in motion capability and muscle histopathology to the same level as normal mice was observed.
In consideration of the above, an investigator-initiated clinical trial to develop N-acetylneuramic acid as a therapeutic agent was carried out for the first time in the world. Phase I trial has been completed, Phase II and III trials are underway, and an international joint research focusing on results from clinical tests carried out overseas with the same protocols is being carried out.
Molecular structure of distal myopathy N-acetylneuramic acid
Although N-acetylneuramic acid is a naturally existing substance, it is synthesized also in the body, and can is ingested as food.