Ultragenyx Pharmaceutical Inc

This study tests an experimental drug called GTX-102 (apazunersen) in 60 people with Angelman syndrome, a genetic disorder causing developmental delays and seizures. Participants range from 1 to 65 years old and are grouped by age and genetic type. The goal is to see if the drug …

This trial tests a one-time gene therapy called UX111 for children with Sanfilippo A, a rare genetic disorder that causes severe brain damage. The therapy delivers a working copy of the missing gene to cells. Researchers will measure whether it reduces harmful substances in the b…

This program provides expanded access to triheptanoin for people with long-chain fatty acid oxidation disorders (LC-FAOD) 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 for the body…

This program provides expanded access to Mepsevii for people with MPS VII (Sly Syndrome) who have no other treatment options. It is designed for individual patients on a case-by-case basis. The goal is to offer a potential treatment when no alternatives exist.

This study monitors up to 50 people with MPS VII (Sly Syndrome) to understand how the disease changes over time. It also checks the long-term safety and effectiveness of the drug vestronidase alfa. Participants may or may not be taking the drug, and the study involves regular che…

This observational study follows people with Glycogen Storage Disease Type Ia who have already received the gene therapy DTX401. The goal is to track their health and safety for at least 10 years after treatment. No new drugs or treatments are given in this study. It will help re…