Biomarin Pharmaceutical

This study tests a drug called BMN 111 in children with achondroplasia, a common form of dwarfism. The goal is to see if it safely helps them grow taller over several years. Participants must have completed a previous related study. The treatment aims to improve growth and daily …

This study tests a daily injection called BMN 111 in about 70 children with achondroplasia, the most common form of dwarfism. The goal is to see if the drug is safe and helps kids grow taller over several years until they reach near-adult height. All children in the study had alr…

This study tests a drug called vosoritide in infants with achondroplasia (a common form of dwarfism) who are at high risk of needing spinal surgery. The goal is to see if the drug is safe and can help the skull opening grow larger, potentially reducing the need for surgery. About…

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 must have a confirmed genetic diagnosis and…

This study looks at the long-term safety and effects of a weekly IV drug called BMN 351 in people with Duchenne muscular dystrophy (DMD) whose genetic makeup allows for exon 51 skipping. Participants must have completed a prior study of the same drug. The goal is to see if the dr…

This study follows people with severe hemophilia A who received a one-time gene therapy (BMN 270) in earlier trials. Researchers want to see how safe the treatment is over many years and whether it continues to reduce bleeding episodes. About 172 participants will be monitored be…

This study looks at the long-term safety and effectiveness of a daily injection called BMN 111 in 30 children with achondroplasia, the most common form of dwarfism. Participants had already received two years of treatment in an earlier study. Researchers are monitoring side effec…

This study tracks the long-term safety of cerliponase alfa in 35 children with CLN2 disease, a rare and fatal genetic disorder that causes seizures, loss of movement, and speech. Participants are already receiving or will start the treatment. Researchers monitor for serious side …

This study tests a medicine called pegvaliase, given as a shot under the skin, in teenagers aged 12-17 with phenylketonuria (PKU). The goal is to see if it safely lowers high blood phenylalanine levels better than a strict diet alone. About 55 teens will take part, with half gett…

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 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 stay on Palynziq without severe allergic reactions, help…

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