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Study on the Effects and Safety of Alpelisib for Children and Adults with Megalencephaly-Capillary Malformation Polymicrogyria Syndrome

Fast replyRegistered drugNo placebo
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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 rare condition called Megalencephaly-Capillary Malformation Polymicrogyria Syndrome (MCAP). This condition is characterized by an unusually large brain, skin abnormalities, and brain malformations. The study aims to evaluate the effectiveness and safety of a medication called Alpelisib, which is taken as a film-coated tablet. Alpelisib is being tested to see if it can help improve adaptive behavior in patients with MCAP over a period of 24 months.

Participants in the study will receive either Alpelisib or a placebo, which looks like the medication but does not contain the active ingredient. The study is designed to be double-blind, meaning neither the participants nor the researchers will know who is receiving the actual medication or the placebo. This helps ensure that the results are not influenced by expectations. The main goal is to see if there is an improvement in adaptive behavior, which refers to how well a person can adjust to changes and manage daily life activities.

Throughout the study, various assessments will be conducted, including changes in brain structure using MRI scans, monitoring of any side effects, and evaluations of quality of life. The study will also look at changes in neuropsychological functions such as attention, cognition, and motor skills. The trial will last for up to 24 months, with regular check-ins to monitor progress and any changes in the participants' condition. The ultimate aim is to determine if Alpelisib can provide a meaningful benefit to those living with MCAP.

The research process

The trial runs in 7 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. If applicable, assent from a parent or guardian will also be needed. This step ensures that you understand the study and agree to participate.

  2. Step 2

    Initial assessment

    An initial assessment will be conducted to confirm your eligibility. This includes verifying your age, diagnosis of Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP), and other health criteria. A DNA test will be performed to check for specific genetic mutations.

  3. Step 3

    Medication administration

    You will be randomly assigned to receive either the study medication, alpelisib, or a placebo. The medication is taken orally. The dosage and frequency will be determined by the study team and will be explained to you in detail.

  4. Step 4

    Treatment period

    The treatment period lasts for 24 months. During this time, you will continue to take the assigned medication as instructed. Regular check-ups will be scheduled to monitor your health and the effects of the medication.

  5. Step 5

    Regular assessments

    Throughout the study, assessments will be conducted at various intervals (6, 12, 18, and 24 months) to evaluate changes in adaptive behavior, brain volume, and other health indicators. These assessments may include questionnaires, physical exams, and imaging tests like MRI.

  6. Step 6

    Monitoring side effects

    You will be monitored for any side effects or adverse events. It is important to report any new symptoms or changes in your health to the study team immediately.

  7. Step 7

    End of treatment evaluation

    At the end of the 24-month treatment period, a final evaluation will be conducted. This will include a comprehensive assessment of your health and any changes observed during the study.

Who can join the trial?

11 criteria

  • Signed informed consent must be obtained from the patient, parent, or guardian before any study-related procedures are performed.
  • Patients must be between the ages of 2 and 40 years old at the time of giving consent.
  • Patients must have a diagnosis of Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP) with a neurodevelopmental disorder, which can range from a specific learning disorder to severe intellectual disability.
  • There must be documented evidence of a mutation in the PIK3CA gene, confirmed by a DNA test.
  • Patients must have adequate bone marrow and organ function, which will be assessed during the screening visit. This includes:
    • Adequate levels of certain blood cells and minerals.
    • Normal kidney and liver function.
    • Normal blood sugar and cholesterol levels.
    • Patients must be able to swallow the study drug in the form of tablets, a drinkable suspension, or granules.
    • Women who can become pregnant must have a negative pregnancy test at the screening visit.
    • Male patients with partners who are pregnant or could become pregnant should use condoms during sexual intercourse while participating in the study and for one week after stopping the study drug.
    • For an exploratory part of the study, optional consent for a lumbar puncture (a procedure to collect fluid from the spine) is required.

Who cannot join the trial?

10 criteria

  • Patients with any other serious medical condition that might interfere with the study.
  • Patients who are currently taking medications that could affect the study results.
  • Patients who have had a recent surgery or are planning to have surgery during the study period.
  • Patients who are pregnant or breastfeeding.
  • Patients who have a history of allergic reactions to similar medications.
  • Patients who are unable to follow the study procedures or attend the required visits.
  • Patients who have participated in another clinical trial within the last 30 days.
  • Patients with a history of drug or alcohol abuse.
  • Patients with certain mental health conditions that might affect their ability to participate.
  • Patients who do not have a reliable caregiver or support system to assist them during the study.
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Investigated drugs

Alpelisib (BYL719) is a medication being studied for its potential to help people with a condition called Megalencephaly-CApillary malformation Polymicrogyria syndrome, or MCAP for short. This condition can cause problems with brain development and other issues. Alpelisib works by targeting specific pathways in the body that are involved in cell growth and development. The goal of using this medication in the trial is to see if it can improve adaptive behavior, which means helping patients better manage daily activities and interactions, after 24 months of treatment.

What is already known about the treatment

Alpelisib – Alpelisib is administered orally in the form of tablets. It is currently being studied in clinical trials for its effectiveness and safety in treating Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP) in both children and adults. The main therapeutic indication for alpelisib in this trial is to improve adaptive behavior in patients with MCAP. At the molecular level, alpelisib works by inhibiting a specific enzyme involved in cell growth and survival, which may help reduce abnormal cell growth associated with the syndrome. It is classified pharmacologically as a PI3K inhibitor.

Investigated diseases

Megalencephaly-Capillary Malformation Polymicrogyria Syndrome – This is a rare genetic disorder characterized by an abnormally large brain size, known as megalencephaly, and distinctive skin and vascular anomalies. The condition often includes capillary malformations, which are small, flat, red or pink marks on the skin caused by abnormal blood vessels. Polymicrogyria, a brain malformation where the brain surface has too many small folds, is also a key feature. As the disease progresses, individuals may experience developmental delays, intellectual disabilities, and seizures. The syndrome can also lead to overgrowth of other body parts and various neurological issues. Symptoms and severity can vary widely among affected individuals.
Trial detailsLast updated 2 Oct 2026
Age18+ yearsPhasePhase IITrial ID2022-500197-34-01Protocol codeSESAMEstimated enrolment20 patientsSponsorCentre Hospitalier Universitaire De Dijon

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On this site, “treatment” means an investigational medicine being studied in a clinical trial. Its safety and efficacy for the use being studied have not yet been confirmed, some participants may receive a placebo or a comparator medicine, and taking part does not guarantee any health benefit. The decision to take part is made by the doctor at the research site. This site is for information only and does not replace medical advice.

This service is not affiliated with the European Commission, the EMA, or the official CTIS system. Most information comes from publicly available international clinical-trial registries, supplemented by data from academic sites, national regulators and commercial sponsors. On this site, “treatment” and “therapy” mean a medicine being tested in a clinical trial. Its safety and effectiveness in the use being studied are not yet confirmed, some participants may receive a placebo or a comparator, and taking part does not guarantee a health benefit. The doctor at the research site decides who can take part. This site provides information, not medical advice. Certain content and visual elements on this website have been generated or enhanced using artificial intelligence (AI).