Biomarin Pharmaceutical

This study is testing whether a drug called vosoritide can help children with Turner syndrome, SHOX deficiency, or Noonan syndrome grow taller. It's for kids aged 3-12 who haven't grown enough despite receiving standard growth hormone treatment. Researchers will compare three dif…

This is a very early study to check if a new oral drug called BMN 349 is safe for people with Alpha-1 Antitrypsin Deficiency, a genetic condition that can damage the lungs and liver. A small group of 12 adults with specific genetic types of the disease will take a single dose of …

This study is testing whether a daily injection called vosoritide can help children with unexplained short stature grow taller. It will compare the drug's effects to a placebo and, in the US, to standard growth hormone treatment. The goal is to see if vosoritide safely increases …

This study is testing whether a daily injection called vosoritide can safely help infants and young children with hypochondroplasia grow better. It will involve about 60 children under 3 years old, who will receive either the drug or a placebo for one year. The main goals are to …

This 10-year observational study aims to monitor the long-term safety of Palynziq (pegvaliase) injections in people with phenylketonuria (PKU). Researchers will follow 450 participants who are already taking or planning to start the medication to track potential side effects like…

This early-stage study is testing a new drug called BMN 351 in boys with Duchenne muscular dystrophy (DMD), a serious muscle-wasting condition. The main goal is to find out if the drug is safe and how the body processes it when given through an IV. The study will involve about 18…

This study aims to understand how children with achondroplasia grow and develop over time, particularly those taking the medication VOXZOGO™. Researchers will follow 170 participants (mostly children under 14) for at least 5 years by collecting their medical records and asking fa…

This study aims to gather safety information on the PKU drug Palynziq (pegvaliase) when used during pregnancy and breastfeeding. Researchers will follow about 50 pregnant women with PKU who are already taking the drug and track the health of both the mothers and their babies for …

This study aims to collect detailed growth measurements from children with idiopathic short stature (unexplained short height) to better understand their development patterns. Researchers will follow 300 children aged 2-16 years who are significantly shorter than average for thei…