Alpelisib for Vascular Anomalies

(VATCH Trial)

This trial tests a drug called Alpelisib to determine its safety and effectiveness in treating certain vascular anomalies (abnormal blood vessel formations) caused by specific genetic changes. Alpelisib already has approval for treating some breast cancers, but its use for these vascular anomalies remains experimental. Ideal candidates for this trial have a symptomatic vascular anomaly linked to PIK3CA or TIE-2/TEK genetic variants that require medical treatment. Participants must visit the Children's Hospital of Philadelphia regularly and take the study drug for up to three years if they respond well. As a Phase 2 trial, this research focuses on measuring the treatment's effectiveness in an initial, smaller group of people, offering a chance to contribute to important medical advancements.

The trial does not specify if you must stop taking your current medications, but it does mention that prior medications not allowed by the study protocol could be a reason for exclusion. It's best to discuss your current medications with the study team to see if they are compatible with the trial.

Research has shown that alpelisib has been tested for safety in people with conditions linked to the PIK3CA gene, such as overgrowth disorders. In these studies, about 56% of participants experienced side effects, which were mostly mild and manageable. Common side effects included high blood sugar and diarrhea. The FDA has already approved alpelisib for treating certain types of breast cancer, which supports its safety profile. However, its use for vascular anomalies remains experimental.¹²³⁴⁵

Alpelisib is unique because it targets the PIK3CA pathway, which is often involved in vascular anomalies. Unlike traditional treatments that may focus on managing symptoms or using surgical interventions, Alpelisib works at a molecular level to address the root cause of these anomalies. Researchers are excited about its potential because it offers a more precise approach by directly inhibiting the pathway responsible for the growth and maintenance of these vascular abnormalities. This could translate into more effective management and better outcomes for patients with fewer side effects.

Studies have shown that Alpelisib can help treat conditions related to the PIK3CA gene, which influences cell growth. In one study, 92% of patients experienced improvements, with many noticing a significant decrease in lesion size. Another report found that 97% of patients showed improvement in at least one symptom of their disease. Alpelisib targets a specific pathway involved in abnormal blood vessel growths, known as vascular anomalies. This targeted approach has shown promise for individuals with similar genetic conditions, even if they don't fully meet the usual diagnostic criteria. Although Alpelisib is approved for certain cancers, its success in these studies suggests potential for treating vascular anomalies. Participants in this trial will receive Alpelisib to assess its effectiveness and safety for vascular anomalies.³⁴⁵⁶⁷