Lymphangioma Trials in Disease

Study on Alpelisib for Treating Lymphatic Malformations in Patients with PIK3CA Mutation

This clinical trial is investigating the use of alpelisib to treat lymphatic malformations in patients who have a specific genetic change called a PIK3CA mutation. Lymphatic malformations are abnormal formations of the lymphatic system that can occur anywhere in the body and may cause swelling, pain, and other complications depending on their location.

Main inclusion criteria:

• Participants must have a doctor-confirmed diagnosis of lymphatic malformation
• Evidence of a PIK3CA gene mutation must be present before starting the study
• At least one measurable lesion must be confirmed by independent review
• Participants must be able to take medication by mouth, either as tablets, oral suspension, or granules
• Patients must be willing to stay at the clinical site as required and follow study schedules
• Participants should not be candidates for or should not want non-drug treatments like sclerotherapy, embolization, or surgery until Week 24 of the study

Main exclusion criteria:

• Patients without a PIK3CA mutation
• Patients without lymphatic malformations
• Patients who are pregnant or breastfeeding
• Those participating in another clinical trial at the same time
• Patients with recent surgery or planning surgery during the study period
• History of allergic reactions to alpelisib or similar medications
• Other medical conditions that might interfere with the study treatment

Focus and goals:

The primary goal of this trial is to determine whether alpelisib can effectively reduce the size of lymphatic malformations by at least 20% by Week 24 of treatment. The study will use regular MRI scans to monitor changes in the size of the malformations. Alpelisib works by blocking a specific protein involved in cell growth, which may help reduce abnormal growths. The trial also aims to assess the impact of treatment on patients' quality of life and overall condition.

Participants will be randomly assigned to receive either alpelisib or a placebo for comparison. The treatment phase lasts up to 24 weeks, during which regular health monitoring and assessments will take place. The study is designed for both children aged 6-17 years and adults aged 18 years and older.

Investigational drug:

Alpelisib, also known by the code name BYL719, is a PI3K inhibitor that targets specific pathways in cells to prevent uncontrolled growth. It is taken orally as film-coated tablets or granules. This medication is being evaluated for both its effectiveness and safety in treating lymphatic malformations associated with PIK3CA mutations in different age groups.