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Multi-Center Study of ManNAc for GNE Myopathy

Research Question:
Does ManNAc slow the progression of muscle strength decline in GNE myopathy?

Basic Study Information

GNE myopathy is a rare genetic muscle disease characterized by progressive muscle atrophy and weakness. The disease is caused by mutations in the gene that encodes the enzyme that initiates and regulates N-acetylneuraminic acid (Neu5Ac) biosynthesis and glycan sialylation. Currently, there is no therapy available for this disease. N-Acetylmannosamine (ManNAc), an orphan drug in development for GNE myopathy, is an uncharged monosaccharide and the first committed precursor in Neu5Ac biosynthesis. In this randomized, double-blind, placebo-controlled trial the efficacy and long-term safety of ManNAc will be evaluated in subjects with GNE myopathy.

Location: University of Rochester
Study Web URL:
Study Reference #: 2017P002505

Lead Researcher (Principal Investigator)

Lead Researcher:  Johanna Hamel

Study Contact Information

Study Coordinator: Erin Richardson
Phone: (585) 275-0420

Additional Study Details

Number of Visits:  6 to 10
Parking:  Reimbursed
Transportation Coverage: 
Reimbursement:  Yes

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