Ultragenyx Pharmaceutical Inc

This study is testing an investigational drug called setrusumab to see if it can reduce the number of broken bones in people with osteogenesis imperfecta (OI), also known as brittle bone disease. The trial involves about 183 participants, who will receive either setrusumab or a p…

This study continues testing GTX-102, an experimental treatment for Angelman Syndrome, to understand its long-term safety and effectiveness. It's open only to people who completed earlier GTX-102 trials. Researchers will monitor side effects and track developmental progress over …

This study is testing whether an investigational drug called GTX-102 can improve thinking skills and other symptoms in children with Angelman syndrome, a rare genetic disorder that affects development. Researchers are comparing the drug against a sham (placebo-like) procedure in …

This study aims to see if a new medicine called setrusumab works better than the current standard treatment (bisphosphonates) at reducing broken bones in children with osteogenesis imperfecta, also known as brittle bone disease. Children aged 2 to under 7 with specific types of t…

This study is testing whether a special nutritional oil called triheptanoin can reduce serious health events like muscle breakdown, heart problems, and low blood sugar in children with a rare disorder where their bodies struggle to use fats for energy. About 69 children under 18 …

This study is tracking the long-term safety and effectiveness of a one-time gene therapy for adults with late-onset OTC deficiency, a rare genetic disorder that affects the body's ability to process protein. It follows 11 adults who previously received the experimental treatment …

This study is tracking children with Sanfilippo Syndrome A (MPS IIIA) who received an experimental gene therapy called UX111 in earlier trials. The goal is to monitor their long-term safety and see how well the treatment continues to work over many years. Researchers will check f…

This study is testing whether a drug called setrusumab can reduce the number of broken bones in Japanese children with osteogenesis imperfecta (OI), also known as brittle bone disease. Six children with specific types of OI will receive the drug for up to two years, with the opti…

This study is testing a single-dose gene therapy called UX701 for adults with Wilson Disease, a condition where the body cannot properly process copper. The main goals are to see if the treatment is safe and if it can help the body regulate copper on its own, which could reduce o…

This study is testing whether a single dose of an experimental gene therapy called DTX301 can help the body control ammonia levels in people with late-onset OTC deficiency. About 32 participants, aged 12 and older, will be randomly assigned to receive either the gene therapy or a…

This study follows people with X-linked hypophosphatemia (XLH), a rare genetic bone disorder, to better understand how the disease progresses over time. Researchers are tracking 782 patients who are either receiving burosumab treatment or not receiving treatment to monitor long-t…

This study aims to collect long-term safety and health information from up to 150 children and adults with a rare metabolic disorder called LC-FAOD. It will follow participants for up to 10 years to understand the natural course of the disease and monitor the safety of a specific…

This study aims to observe and collect long-term information from 23 patients with a rare bone-softening disease called tumor-induced osteomalacia (TIO). It will track the safety and effectiveness of a specific drug (burosumab) for those taking it, and monitor the underlying tumo…