GNE myopathy is a debilitating autosomal recessive myopathy due to mutations in the GNE gene, UDP-N-acetylglucosamine-2-epimerase/ N-Acetylmannosamine kinase, which encodes critical enzymes for sialic acid biosynthesis. Clinically, it is characterized by atrophy and weakness in distal skeletal muscle. We have established that a key factor in the mechanism of disease is sialic acid deficiency, a target for recent and ongoing clinical trials. In GNE myopathy patients with existing severe muscle atrophy and degeneration, however, exploring additional therapeutic options may prove beneficial.

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