An Open Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy
Status:
Completed
Trial end date:
2018-11-15
Target enrollment:
Participant gender:
Summary
Background:
Patients with GNE myopathy have progressive muscle weakness and can have difficulty walking
and decreased mobility. The disease is a rare genetic disorder that results from a gene
mutation in a key step in the body's production of a sugar called sialic acid, (also called
N-acetylneuraminic acid, Neu5Ac). Researchers think decreased sialic acid bound to muscle
proteins may be the cause of muscle wasting in GNE myopathy. Researchers are testing the drug
ManNAc which is a precursor in the production of sialic acid within cells. ManNAc is provided
as a powder dissolved in water to be administered orally.
Phase:
Phase 2
Details
Lead Sponsor:
National Human Genome Research Institute (NHGRI)
Collaborator:
National Center for Advancing Translational Science (NCATS)