Noonan syndrome is a genetic condition caused by a gain-of-function variation in the RAS/MAPK signaling pathway, which plays a key role in cell growth, division and differentiation. People with Noonan syndrome may experience heart defects, short stature, skeletal abnormalities and variable cognitive impairment.

Learn more about our active Noonan syndrome clinical trials below. To view all BioMarin’s historical trials in Noonan syndrome, click here.