We support people living with GNE MYOPATHY, and fund the research to treat it.
CLINICAL STUDY OPPORTUNITY • UX016
Ultragenyx’s UX016 Phase 1/2 Clinical Trial – Now Recruiting
A Phase 1/2 clinical trial conducted by Ultragenyx is evaluating UX016, an investigational oral therapy for adults with GNE myopathy. Learn about the study, eligibility, and participating locations.
Where would you like to start?
I was just diagnosed
Six concrete steps, in order, on how to navigate your recent diagnosis.
I'm living with GNE myopathy
Find a specialist who knows this disease. Talk with an advocate in your language. Join a support group.
I want to help end this disease
See where the gene therapy program actually stands, what we have completed, and what the next stage requires.
GNE myopathy is a rare, inherited muscle disease that causes steady, progressive muscle weakness, developing gradually over many years. It is an autosomal recessive condition caused by mutations in the GNE gene, which is essential for the body's production of sialic acid, a crucial building block for muscle function and regeneration.
What is GNE Myopathy?
Neuromuscular Disease Foundation’s Impact:
$10M
Directed to GNE myopathy research and patient programs50+
Countries where we support patients and families20+
Countries with a trained patient advocate who lives with GNE myopathy43
Scientific advisors and collaborating investigators1
International gene therapy program, the only one of its kind for this diseaseWe have brought together a world-class team of scientists, medical doctors, and drug development experts to design a targeted gene therapy for GNE myopathy. This international collaboration connects leading research hospitals and specialized laboratories, including Yale, Hadassah, Nationwide Children's, the University of Washington, the NIH, and the drug development company Charles River Labs, to safely and rapidly advance our treatment from the lab to clinical trials. NDF has funded this work and it is designed to help every patient, regardless of which mutation they carry.
Gene Therapy Program:
We hope to begin human clinical trials and we need your help to get there.
A Rare
Affair.
A special evening.
A meaningful impact.
This exclusive event has become a cherished tradition, marking the start of the J.P. Morgan Health Conference. Enjoy premier wines and hors d’oeuvres, graciously provided by our event sponsor, Ultragenyx. All proceeds directly benefit NDF, supporting our work for those living with GNE myopathy and advancing research toward effective treatments.
- Date
- Sunday, January 10, 2027
- Time
- 6:30 PM to 9:00 PM PST
- Location
- Starlite Room, Beacon Grand Hotel, San Francisco