Ultragenyx Pharmaceutical Inc

This study tests a one-time gene therapy called UX701 for adults with Wilson disease, a genetic condition that causes copper buildup. The goal is to see if it is safe and can help the body control copper levels, possibly allowing patients to take fewer or no daily medications. Ab…

This phase 3 study tests setrusumab, a monthly IV infusion, in 6 Japanese children with osteogenesis imperfecta (types I, III, or IV), a condition that causes fragile bones and frequent fractures. The main goal is to see if the drug lowers the number of fractures, including spine…

This Phase 3 trial tests a gene therapy called DTX301 for people with late-onset OTC deficiency, a rare genetic disorder that causes dangerous ammonia buildup. The study involves 37 participants and compares the gene therapy to a placebo. The goal is to see if the treatment can h…

This study follows 11 adults with late-onset OTC deficiency who received a single dose of gene therapy (DTX301) in an earlier trial. Researchers are checking long-term safety and how well the body makes urea and controls ammonia levels. The goal is to see if the treatment remains…

This study follows 150 people with long-chain fatty acid oxidation disorders (LC-FAOD) to check the long-term safety of their treatment, including for pregnant women and their babies. Researchers track serious side effects and disease complications. The goal is to better understa…

This phase 3 trial tests the long-term safety of GTX-102 (apazunersen) in 255 people with Angelman syndrome, a genetic disorder causing developmental delays and seizures. Participants have already completed an earlier GTX-102 study and will continue receiving the drug. The main g…

This Phase 3 trial tests a drug called GTX-102 (apazunersen) in 129 children with Angelman syndrome, a genetic condition causing severe developmental delays. The study compares the drug to a sham procedure to see if it improves cognitive function and other symptoms over about 11 …

This study follows 41 children with Sanfilippo A (MPS IIIA) who previously received UX111 gene therapy in earlier trials. Researchers will monitor safety and how well the therapy controls the disease over time, using tests like the Bayley cognitive scale. No new gene therapy is g…

This study tests whether triheptanoin, a special oil, can reduce major clinical events (like severe low blood sugar or heart problems) in children with long-chain fatty acid oxidation disorders (LC-FAOD), a rare condition where the body can't break down certain fats for energy. A…

This study tests a medicine called setrusumab in people with osteogenesis imperfecta (brittle bone disease). The goal is to see if it can lower the number of bone fractures. About 183 participants with types I, III, or IV of the disease who have had recent fractures will receive …

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 bone break…

This study follows 23 people with tumor-induced osteomalacia (TIO), a rare condition where tumors cause weak bones. The goal is to see how well the drug burosumab works over time and to monitor any tumor changes. Participants continue their usual care, and no new treatments are g…

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 monitors the long-term safety and effectiveness of the drug burosumab. No new treatment is given; participants…