UX016
for GNEM
UX016: Substrate replacement therapy for the potential treatment of GNE myopathy (GNEM)
Program overview
Stage: IND cleared; Phase 1/2 study planned
Disease: GNE myopathy
Prevalence: Approximately 10,000 in commercially accessible geographies
Disease Mechanism: Genetic defect in the biosynthetic pathway for sialic acid (SA)
Symptoms: Progressive muscle wasting and severe disability
Treatment Modality: Substrate replacement
Treatment Mechanism: Improve biodistribution to target tissues, like muscle, more effectively and efficiently than free SA
GNEM: a rare, severely debilitating, inherited neuromuscular disorder caused by mutations in the GNE gene that lead to deficient SA production
GNE myopathy, also known as hereditary inclusion body myopathy (HIBM) and Nonaka Myopathy, is a rare, severely debilitating, adult-onset autosomal recessive neuromuscular disease caused by a defect in the biosynthetic pathway for sialic acid. The body's inability to produce adequate sialic acid leads to progressive muscle wasting and severe disability. Patients typically become non-ambulatory and ultimately dependent on caregivers for most activities of daily living due to loss of upper and lower extremity muscle function. GNEM is estimated to affect approximately 10,000 people in commercially accessible geographies, and there is currently no approved therapy in the United States.
UX016: A prodrug of SA designed to enhance efficient delivery to muscle as compared to naturally occurring SA
UX016 is an investigational small-molecule prodrug composed of sialic acid (SA; also known as N‑acetylneuraminic acid [NANA]) and a C16 fatty acid tail designed to improve biodistribution to target tissues, like muscle, more effectively and efficiently than free SA. By increasing SA availability in muscle, UX016 is expected to restore sialylation of muscle glycoproteins and glycolipids and has the potential to slow or alter GNEM disease progression.
The UX016 program is externally funded through clinical proof-of-concept, including a Phase 1/2 study expected to begin in the second half of 2026.