Ultragenyx Pharmaceutical Inc

This program provides expanded access to triheptanoin for people with long-chain fatty acid oxidation disorders who have few treatment options and cannot join a clinical trial. The goal is to help manage the disease by providing an alternative energy source. Participants must not…

This program provides expanded access to Mepsevii for people with MPS VII (Sly Syndrome) who have no other treatment options. Mepsevii is an enzyme replacement therapy designed to help manage the disease. Patients must meet specific eligibility criteria to be considered.

This study tests a gene therapy called UX111 for children with Sanfilippo syndrome type A (MPS IIIA), a rare genetic disease that damages the brain. The treatment delivers a working gene to help the body break down harmful substances. The goal is to slow or stop the disease, but …

This study follows people with Glycogen Storage Disease Type Ia (GSDIa) who have already received the gene therapy DTX401. Researchers will monitor their health and how well the treatment works for at least 10 years. The goal is to track side effects, pregnancy outcomes, and chan…

This study tests an experimental drug called GTX-102 in 60 children and adults with Angelman syndrome, a rare genetic disorder that causes severe developmental delays. The goal is to see if the drug is safe and can improve thinking, communication, and movement. Participants will …

This study follows up to 50 people with MPS VII (Sly Syndrome) to understand how the disease changes over time. Researchers will also check how well and how safely the drug vestronidase alfa works in the long run. Participants may or may not be taking this treatment. The goal is …