Ultragenyx Pharmaceutical Inc

This study tests a one-time gene therapy (UX111) for children with Sanfilippo syndrome type A, a rare genetic disorder that damages the brain. The treatment aims to reduce harmful substances in the brain and slow down the disease. About 36 children will take part in this advanced…

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

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 who meet specific criteria. The goal is to offer a potential treatment when no alternatives exist.

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 learn how the disease changes over time and how well the treatment vestronidase alfa works in the long run. Researchers will track symptoms, lab results, and any side effects like allergic reactions. The goal is to…

This study follows about 140 people with Glycogen Storage Disease Type Ia who have already received the gene therapy DTX401. Researchers will track safety and how well the treatment works for at least 10 years. No new drug is given; participants simply attend regular check-ups to…