Ultragenyx Pharmaceutical Inc

This study is testing an experimental drug called GTX-102 in people with Angelman syndrome, a rare genetic disorder that affects development and causes seizures and movement problems. Researchers want to see if the drug is safe and if it can improve thinking, communication, behav…

This study will monitor 140 people with Glycogen Storage Disease Type Ia (GSDIa) for at least 10 years after they received an investigational gene therapy called DTX401. The main goal is to understand the long-term safety and effectiveness of the treatment by tracking health outc…

This program provides access to the drug Mepsevii for patients with a rare genetic disorder called MPS VII (Sly Syndrome). It is for individuals who have no other treatment options available. The goal is to manage the disease by providing the approved therapy in countries where i…

This study is testing a one-time gene therapy called UX111 for children with Sanfilippo Syndrome Type A, a rare and severe genetic disorder. The therapy involves a single intravenous injection designed to deliver a working copy of a missing gene, with the goal of slowing or stopp…

This program provides access to an experimental medication called triheptanoin for patients with Long Chain Fatty Acid Oxidation Disorders (LC-FAOD). It's for patients who have limited treatment options and cannot participate in clinical trials. The goal is to help manage this ra…

This study aims to better understand how MPS VII (Sly Syndrome) progresses and how the treatment vestronidase alfa works over the long term. It will follow about 50 patients, both those receiving the treatment and those who are not, to collect detailed health information. The goa…