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

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What is this trial about?

A plain-language summary of the goals, design and what participants do

This clinical trial is focused on studying a condition known as lymphatic malformations, which are abnormal formations of the lymphatic system, associated with a specific genetic change called the PIK3CA mutation. The trial is testing a medication called alpelisib, also known by its code name BYL719, to see if it can help treat these malformations. Alpelisib is taken orally, either as granules or film-coated tablets, and is being compared to a placebo to evaluate its effectiveness and safety.

The purpose of the study is to assess how well alpelisib works in reducing the size of the lymphatic malformations in both children and adults. Participants in the study will be randomly assigned to receive either alpelisib or a placebo. The study will last for a period of up to 260 days, during which participants will have regular check-ups and imaging tests, such as MRI scans, to monitor changes in the size of their lymphatic malformations.

The trial aims to determine if alpelisib can achieve a significant reduction in the size of the malformations by the 24th week of treatment. This will be measured by looking for at least a 20% decrease in the volume of the affected areas. The study will also consider participants' overall impressions of their condition's severity to evaluate the treatment's impact on their quality of life. The results will help understand the potential benefits of alpelisib for people with lymphatic malformations linked to the PIK3CA mutation.

The research process

The trial runs in 6 steps – from screening to follow-up. Each step says what happens and what the team monitors.

  1. Step 1

    Joining the study

    Upon joining the study, you will be required to provide a signed informed consent. This is a document that confirms your agreement to participate in the trial and that you understand the details and potential risks involved.

    You must be willing to stay at the clinical site as needed and follow the study's schedule and restrictions.

  2. Step 2

    Initial assessment

    A physician will confirm and document your diagnosis of lymphatic malformations associated with a PIK3CA mutation.

    You will need to have at least one measurable lesion confirmed by an independent review before starting the treatment.

  3. Step 3

    Randomization

    You will be randomly assigned to receive either the study medication, alpelisib, or a placebo. A placebo is a substance with no active medication, used to compare the effects of the actual drug.

  4. Step 4

    Treatment phase

    If you are assigned to the alpelisib group, you will take the medication orally in the form of film-coated tablets. The dosage and frequency will be determined by the study protocol.

    The treatment will continue for a specified period, up to 24 weeks, during which your response to the medication will be monitored.

  5. Step 5

    Monitoring and assessments

    Throughout the trial, you will undergo regular assessments, including MRI scans, to monitor the size of your lesions and any changes.

    Your overall health and any side effects will also be closely monitored by the study team.

  6. Step 6

    End of treatment evaluation

    At the end of the 24-week treatment period, your response to the medication will be evaluated. This includes checking for at least a 20% reduction in the size of your lesions.

    Your experience and any changes in your condition will be assessed using a patient global impression scale.

Who can join the trial?

7 criteria

  • Signed informed consent and assent (if needed) from the participant, parent, legal authorized representative, or guardian.
  • Participant must be willing to stay at the clinical site as required by the study and follow study rules and schedules.
  • Participant has a doctor-confirmed diagnosis of a lymphatic malformation (LyM) at the time of consent. This means the participant has a specific type of growth in the lymphatic system.
  • Participant is not a candidate for or does not want to receive non-drug treatments like sclerotherapy, embolization, or surgery until the end of Week 24 of the study.
  • Participant has evidence of a somatic mutation in the PIK3CA gene before starting the study. A somatic mutation is a change in the DNA that occurs after birth and is not inherited.
  • Participant has at least one measurable LyM lesion confirmed by a special assessment before starting the study. A lesion is an area of abnormal tissue.
  • Participants must be able to take the study drug by mouth, either as a tablet, oral suspension, or granules. Taking the drug through a feeding tube is allowed.

Who cannot join the trial?

9 criteria

  • Patients who do not have a **PIK3CA mutation**. This is a specific change in a gene that is important for the study.
  • Patients who do not have **lymphatic malformations**. These are unusual growths in the lymphatic system, which is part of the body's immune system.
  • Patients who are not in the age groups of 6-17 years or 18 years and older.
  • Patients who are not willing or able to follow the study procedures.
  • Patients who have other medical conditions that might interfere with the study treatment.
  • Patients who are pregnant or breastfeeding.
  • Patients who are participating in another clinical trial at the same time.
  • Patients who have had a recent surgery or are planning to have surgery during the study period.
  • Patients who have a history of allergic reactions to the study medication or similar drugs.
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Investigated drugs

Alpelisib is a medication being studied for its potential to help people with lymphatic malformations that are linked to a specific genetic change called a PIK3CA mutation. This medication works by targeting a pathway in the body that is often overactive in these conditions, which can help reduce the size of the malformations. The goal of the trial is to see if alpelisib can effectively improve the condition of patients by Week 24 of the study. It is being tested in both children and adults to see how well it works and how safe it is for different age groups.

What is already known about the treatment

Alpelisib – Alpelisib is administered orally in the form of tablets and is currently being studied in clinical trials for its effectiveness in treating lymphatic malformations associated with a PIK3CA mutation. This medication is being evaluated for its safety and how well it works in both children and adults. Alpelisib works by blocking a specific protein in the body that is involved in cell growth, which can help reduce the size of abnormal growths. It is classified as a PI3K inhibitor, a type of drug that targets specific pathways in cells to prevent them from growing uncontrollably.

Investigated diseases

Lymphatic Malformations Associated with PIK3CA Mutation – Lymphatic malformations are abnormal clusters of lymphatic vessels that can occur anywhere in the body. These malformations are often present at birth and can grow over time, sometimes becoming quite large. The PIK3CA mutation is a genetic alteration that can lead to overgrowth of these lymphatic vessels. As the malformations progress, they may cause swelling, pain, and functional impairment depending on their location. The growth of these malformations can vary, with some remaining stable while others may increase in size or number. They can also lead to complications such as infection or bleeding if not monitored carefully.
Trial detailsLast updated 7 Oct 2026
Age18+ yearsPhasePhase IVTrial ID2023-504146-60-00Protocol codeCBYL719P12201Estimated enrolment217 patientsSponsorNovartis Pharma AG

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