One of the programs of the company Relay is focused on PIK3CA-driven vascular malformations, including PIK3CA Related Overgrowth Spectrum, known as PROS, and PIK3CA-driven lymphatic malformations. Examples are eg. Klippel-Trenaunay, CLOVES, FAVA, MCAP and many more.
The PIK3CA gene creates a protein, called PI3Kα. PI3Kα is involved in your body’s natural cell growth and metabolism. However, mutations or changes in the PIK3CA gene can lead to a malfunctioning, mutated PI3Kα protein, which is the most common cause of vascular malformations and other overgrowth syndromes.
The therapy Relay is investigating in clinical trials, which is called RLY-2608, specifically targets the mutated PI3Kα protein.