BioMarin Clinical Trials

Achondroplasia

Achondroplasia, the most common form of skeletal dysplasia, is a rare genetic condition caused by gain-of-function variation to a gene that plays a key role in developing and maintaining bones. This results in reduced endochondral bone growth and short stature.

Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a progressive neuromuscular condition caused by a deficiency in dystrophin, an essential protein in muscle fibers. It mostly affects boys, with onset of symptoms around 2 to 3 years of age.

Hypochondroplasia

Hypochondroplasia, a form of skeletal dysplasia, is a rare genetic condition caused by gain-of-function variation to a gene that plays a key role in developing and maintaining bones. This results in reduced endochondral bone growth and short stature.

Idiopathic Short Stature

Idiopathic short stature (ISS) describes a condition in which children have a height more than two standard deviations below the mean for average stature population for age and gender, where known causes of short stature have been excluded.

Phenylketonuria

Phenylketonuria (PKU) is a rare inherited metabolic condition caused by a lack of the enzyme phenylalanine hydroxylase (PAH). This leads to a buildup of the amino acid Phe, which impacts the brain, if not managed through a low-protein diet.