Alpelisib for treating PIK3CA-related overgrowth spectrum

Alpelisib is in development for the treatment of the rare disease PIK3CA-related overgrowth spectrum (PROS). PROS is a group of genetic conditions where parts of the body become abnormally overgrown and can affect anywhere from the limbs to the brain, resulting in a wide range of symptoms which can include: pain, fatigue, or seizures depending on the affected areas. PIK3CA is a gene that affects the growth and movement of cells and is mutated (genetically altered) to be overactive in PROS. PROS usually occurs early in development and sometimes stops after childhood, but cases have high variability. Currently, there are no treatments that address that cause of the disease, and patients only receive supportive care dependent on symptoms.