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Amyotrophic lateral sclerosis (ALS),Muscular dystrophy,Distal myopathy with rimmed vacuoles (DMRV)/ GNE myopathy
update：2024/12/02
- Features and Uniqueness
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- GNE myopathy, a type of distal myopathy, is a rare disease and a designated intractable disease in which muscles atrophy and degenerate starting from areas distant from the trunk, gradually depriving the body of freedom. Patients with this disease have mutations in the gene for an enzyme called GNE and cannot synthesize sialic acid, including aceneuramic acid. At the Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, a model mouse was created, and preventive effects were obtained through oral administration of aceneuramic acid.
- In response to this, the field of neurology conducted the world's first physician-initiated Phase I clinical trial in 2010-2011, establishing safety. After physician-initiated Phase II/III trials, extension trials, and efficacy confirmation trials, Nobel Pharma obtained manufacturing and marketing approval for the product named Acenobel® in March 2024. In the future, it is expected that the know-how gained from this seed in creating registries and protocols will be utilized to advance the development of treatments targeting other sialic acid supplements, viral vectors, and oxidative stress.
- Keywords
Researchers
Graduate School of Medicine
Masashi Aoki, Professor
Doctor of Medicine
