Ultragenyx Pharmaceutical Inc

This study looks at the long-term safety of a drug called GTX-102 in 255 people with Angelman syndrome, a rare genetic disorder that affects the nervous system. Participants must have already completed a previous GTX-102 trial. The main goal is to track side effects over time, wi…

This study tests a new gene therapy called UX701 for adults with Wilson disease, a genetic condition that causes copper buildup. The goal is to see if a single dose can help the body control copper levels safely, possibly reducing the need for daily medications. About 82 particip…

This study tests a drug called setrusumab in 183 people with osteogenesis imperfecta (brittle bone disease) to see if it can reduce how often bones break. Participants receive either the drug or a placebo, and researchers measure fracture rates and bone health markers. The goal i…

This study tests a new medicine called setrusumab against standard bone-strengthening drugs (bisphosphonates) in children aged 2 to under 7 with osteogenesis imperfecta (brittle bone disease) types I, III, or IV. The goal is to see if setrusumab can lower the number of broken bon…

This study tests a one-time gene therapy (DTX301) for adults with late-onset OTC deficiency, a genetic disorder that causes dangerous ammonia buildup in the blood. The goal is to safely keep ammonia levels normal without long-term medication. About 32 participants will receive ei…

This study tests a drug called setrusumab in Japanese children with osteogenesis imperfecta (brittle bone disease) types I, III, or IV. The goal is to see if it lowers the number of bone fractures, including spine fractures. Participants must have had at least one fracture in the…

This study compares triheptanoin, a special oil, to standard MCT oil in 69 children (newborn to under 18) with long-chain fatty acid oxidation disorders (LC-FAOD), a rare condition where the body can't break down certain fats for energy. The goal is to see if triheptanoin reduces…

This study follows 23 people with tumor-induced osteomalacia (TIO), a rare condition that causes weak bones due to tumors. Researchers are checking the long-term safety and effectiveness of the drug burosumab, which helps control phosphate levels. Participants continue their pres…

This study follows 150 people with long-chain fatty acid oxidation disorders (LC-FAOD) to monitor the long-term safety of the drug triheptanoin. Researchers will track serious side effects, pregnancy outcomes, and infant health. The goal is to understand how well the treatment wo…

This study follows 41 children with Sanfilippo A (MPS IIIA) who previously received UX111 gene therapy. Researchers will track side effects and measure thinking skills over time to see if the treatment remains safe and effective. The goal is to understand long-term outcomes for t…

This study checks the long-term safety of a one-time gene therapy (DTX301) in 11 adults with late-onset OTC deficiency, a rare genetic disorder that causes dangerous ammonia buildup. Participants had already completed one year of the main study and will be followed for several mo…

This study tests an experimental drug called GTX-102 in 129 children with Angelman syndrome caused by a specific gene deletion. The goal is to see if it improves cognitive function, behavior, and sleep compared to a sham procedure. Participants receive multiple doses over nearly …

This observational study follows 782 people with X-linked hypophosphatemia (XLH), a rare genetic bone disease, to understand how the condition changes over time. It also checks the long-term safety and effectiveness of the drug burosumab. Participants receive no new treatment—jus…