Biomarin Pharmaceutical

This study tests a medicine called BMN 111 in children with achondroplasia, the most common form of dwarfism. The goal is to see if it safely helps them grow taller and improves their daily life. Children who completed a previous study can join, and they will receive the drug for…

This study follows 35 children with CLN2 disease, a rare and severe brain disorder, who are receiving cerliponase alfa. Researchers are monitoring long-term safety, including allergic reactions and device problems. The goal is to ensure the treatment remains safe over time.

This study tests a drug called vosoritide in 80 children aged 3 to 17 with hypochondroplasia, a condition that causes short stature. The goal is to see if it safely increases growth rate over one year compared to a placebo. Participants receive daily injections and are monitored …

This study looks at the long-term safety and effectiveness of a daily injection called BMN 111 in children with achondroplasia, a common form of dwarfism. About 30 children who already received BMN 111 for two years in a previous study will continue treatment. Researchers will tr…

This study tests a one-time gene therapy (valoctocogene roxaparvovec) in 6 Japanese men with severe hemophilia A. The goal is to see if it can raise their clotting factor levels and reduce or stop the need for regular factor VIII infusions. Participants receive the therapy via IV…

This study looks at the long-term safety and effects of a weekly infusion called BMN 351 in people with Duchenne muscular dystrophy (DMD) who can benefit from exon 51 skipping. Participants must have completed a previous BMN 351 study and stay on a stable steroid dose. The goal i…

This study looks at the long-term safety and effectiveness of a daily injection called BMN 111 in children with achondroplasia, the most common form of dwarfism. About 73 children who completed a previous year-long study will receive the drug until they reach near-adult height. T…

This study tests a drug called vosoritide in infants with achondroplasia (a common form of dwarfism) who are at high risk of needing brain surgery due to a narrow skull opening. The main goal is to see if the drug is safe and if it can help the skull opening grow larger, potentia…

This study tests a drug called pegvaliase, given as a shot under the skin, in teenagers aged 12-17 with phenylketonuria (PKU) who have trouble keeping their blood Phe levels under control with diet alone. About 55 teens will be randomly assigned to either get the drug or stick wi…

This early-stage trial tests a single oral dose of BMN 349 in 6 adults with a genetic form of alpha-1 antitrypsin deficiency (PiZZ or PiMZ/MASH). The main goal is to see if the drug is safe and how the body processes it. Participants receive either BMN 349 or a placebo and are cl…

This study follows 172 people with severe hemophilia A who received a one-time gene therapy (BMN 270) in an earlier trial. Researchers want to see if the treatment stays safe and effective beyond 5 years. Participants may be on other hemophilia treatments and still join.

This study tests a one-day rapid drug desensitization (RDD) procedure in 9 adults with phenylketonuria (PKU) who have had allergic reactions to their medication Palynziq. The goal is to see if RDD allows them to restart and continue their regular dose without further severe react…