Biomarin Pharmaceutical

This study tests a new medicine called BMN 333 against an existing drug (vosoritide) to see if it can safely improve growth in children with achondroplasia, the most common form of dwarfism. About 160 children aged 2 to 17 will take part. The goal is to measure how much they grow…

This study tests whether adding methotrexate (a drug that calms the immune system) can help adults with PKU tolerate and respond better to Palynziq, a protein-based treatment. About 12 adults who either haven't taken Palynziq before or have high blood Phe levels despite treatment…

This study tests a drug called vosoritide in 100 children with idiopathic short stature (short height with no known cause). The goal is to see if vosoritide can safely improve growth compared to standard growth hormone. Participants will receive either vosoritide or growth hormon…

This study tests vosoritide, a protein that stimulates bone growth, in 30 children with Noonan syndrome who are not growing well despite growth hormone treatment. The goal is to see if vosoritide can safely increase their growth rate over six months. Participants will receive one…

This study tests a daily injection called vosoritide in infants and toddlers (0 to 3 years old) with hypochondroplasia, a genetic condition that causes short stature. The goal is to see if the drug safely improves growth over 52 weeks. About 60 children will receive either vosori…

This 10-year study will follow 200 people with PKU who are taking or about to start Pegvaliase (Palynziq). Researchers will monitor immune reactions, inflammation, and lab results to better understand long-term safety. The goal is to improve management of side effects like allerg…

This 10-year observational study is following 450 people with PKU who are taking or starting pegvaliase (Palynziq) to monitor long-term safety, especially allergic reactions. Researchers are tracking serious side effects like anaphylaxis, severe joint pain, and low phenylalanine …

This study observes about 170 children and adults with achondroplasia in the United States over roughly 5 years. Researchers will collect health records and questionnaires to track growth, medical issues, surgeries, and quality of life. The goal is to better understand the condit…

This study will follow 300 children with idiopathic short stature (ISS) — meaning they are shorter than expected for no known medical reason. Researchers will measure their height, weight, and other health factors over time to create a detailed picture of natural growth. The goal…

This study follows 50 pregnant women with phenylketonuria (PKU) who have taken the drug Palynziq (pegvaliase) around the time of pregnancy or while breastfeeding. Researchers will track pregnancy outcomes and infant health, including birth defects and development. The goal is to …