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.
Phase:
Phase 2
Details
Lead Sponsor:
Leadiant Biosciences, Inc. William A. Gahl, MD, PhD
Collaborators:
Brigham and Women's Hospital Leadiant Biosciences, Inc. National Human Genome Research Institute (NHGRI) National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) National Institute of Neurological Disorders and Stroke (NINDS)