PIK3CA inhibition in patients with the CLOVES syndrome

ended

The Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal (CLOVES) syndrome is a genetic disorder due to a gain of function mutation of the PIK3CA in a mosaic fashion. This rare condition is associated with severe deformation and poor survival. We identified a new drug able to dramatically improve the outcome of patients with this rare disease. The purpose of the Proof of Concept grant is to better understand the molecular effect of this drug and to rapidly accede to Orphan drug designation.