PIK3CA-related overgrowth spectrum

This study tests alpelisib, a drug that targets a specific gene mutation (PIK3CA), in people with lymphatic malformations—abnormal growths of lymph vessels. The trial includes children and adults and compares alpelisib to a placebo to see if it can shrink the growths and ease sym…

This study tests a new drug called CYH33 in people with rare conditions that cause abnormal tissue growth and blood vessel malformations (PROS and PRVM). The trial has two phases: phase I finds the safest dose, and phase II checks if the drug shrinks growths. About 141 adults and…

This study tests a daily oral drug called alpelisib in people aged 2 and older with PIK3CA-related overgrowth spectrum (PROS), a rare condition causing abnormal tissue growth. The goal is to see if the drug can shrink overgrown tissue and improve symptoms. About 104 participants …

This Phase 2 study tests an oral drug called RLY-2608 in adults and children with overgrowth conditions (like CLOVES or Klippel-Trenaunay syndrome) caused by PIK3CA gene mutations. The drug is designed to block the faulty protein driving abnormal tissue growth. The trial will enr…

This phase 2 trial is testing two targeted drugs—alpelisib and mirdametinib—in 50 people with slow-flow or fast-flow vascular malformations that haven't responded to standard treatments. The goal is to see if these drugs can improve each person's most bothersome symptom over 48 w…

This program provides access to the drug alpelisib (BYL719) for patients with PIK3CA-related overgrowth spectrum or breast cancer who have no other treatment options and cannot join a clinical trial. It is not a study but a way for doctors to request the drug for individual patie…

This phase 2 trial tests alpelisib, a drug originally developed for cancer, in 20 people aged 2 to 40 with MCAP syndrome—a rare condition causing an enlarged brain, blood vessel issues, and developmental delays. Participants receive either alpelisib or a placebo for 6 months, the…

This study aims to understand the genetic and biological causes of Proteus syndrome, a rare condition causing abnormal growth of bones, skin, and other tissues. Researchers will follow up to 1,500 participants over time, using medical exams, imaging, and blood tests to track how …

This study is creating a registry of up to 1,000 people with rare lymphatic system disorders. Researchers will collect information from medical records and yearly surveys to understand how these diseases progress, what treatments are used, and how they affect quality of life. The…