Ultragenyx Pharmaceutical Inc

This study follows 41 children with Sanfilippo A (MPS IIIA) who previously received the gene therapy UX111 in an earlier trial. Researchers will monitor safety and measure how well the treatment controls the disease over time, including thinking skills and chemical markers in spi…

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, such as thinking and learning, over about 11 months. Children receive either the drug or a sham (f…

This study tests a gene therapy called DTX301 for adults with late-onset OTC deficiency, a genetic disorder that causes dangerous ammonia buildup in the blood. The goal is to see if a single treatment can safely keep ammonia levels under control and reduce the need for emergency …

This study tests a new gene therapy called UX701 in 82 adults with Wilson disease, a genetic condition that causes copper buildup. The goal is to see if a single dose can safely help the body regulate copper and reduce the need for daily medications. Participants will be monitore…

This study tests a drug called setrusumab in people with osteogenesis imperfecta (OI), a condition that causes fragile bones and frequent fractures. The goal is to see if setrusumab can lower the number of broken bones compared to a placebo. About 183 participants with OI types I…

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 tests whether triheptanoin, a special fat-based medicine, works better than standard MCT oil at preventing major health crises in children with long-chain fatty acid oxidation disorders (LC-FAOD). These rare genetic conditions prevent the body from breaking down certai…

This study looks at the long-term safety of a drug called GTX-102 for people with Angelman Syndrome, a genetic disorder that causes developmental delays and seizures. About 255 participants who were in earlier GTX-102 trials will continue taking the drug to see if it remains safe…

This study follows 150 people with long-chain fatty acid oxidation disorders (LC-FAOD) to check the long-term safety of their treatment, including during pregnancy and in infants. Researchers will track serious side effects and disease complications. The goal is to better underst…

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 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 follows 23 people with tumor-induced osteomalacia (TIO), a rare condition where tumors cause weak bones. Researchers are checking how well the drug burosumab works over time and watching for side effects. Participants continue their normal treatment while the study col…

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…