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Study on the Safety and Effectiveness of Sirolimus for Treating Drug-Resistant Epilepsy in Children with Rare Brain Disorders Linked to mTOR Pathway Activation

Verified siteRegistered 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 the effects of a medication called Rapamune, which contains the active substance sirolimus. The study is aimed at children who have a type of epilepsy that does not respond well to standard treatments. This form of epilepsy is linked to rare conditions affecting the brain, known as mTORopathies. These conditions include focal cortical dysplasia and LEATs, which are associated with the activation of a specific pathway in the brain called the mTOR pathway.

The purpose of the study is to evaluate the safety and effectiveness of Rapamune in reducing seizures in children with these conditions. Participants in the study will receive the medication in the form of an oral solution. The study will monitor the number of seizures experienced by participants and any side effects that may occur. The goal is to see if the medication can reduce seizures by at least 50% in the participants.

Throughout the study, researchers will also assess the overall impact of the treatment on the quality of life for the children and their families. The study will last for a period of time, during which participants will be closely monitored for any changes in their condition and any potential side effects of the treatment. The findings from this study could provide valuable insights into the treatment of drug-resistant epilepsy in children with these rare brain conditions.

The research process

The trial runs in 5 steps – from screening to follow-up. Each step says what happens and what the team monitors.

  1. Step 1

    Initial assessment

    The study begins with an initial assessment to confirm eligibility. This includes a diagnosis of drug-resistant epilepsy with focal onset and a confirmed or suspected mTORopathy, such as focal cortical dysplasia or hemimegalencephaly.

    Eligibility requires a history of at least 8 seizures in the 4 weeks prior to the study. For patients of reproductive age, a negative pregnancy test is required within 2 weeks before starting the study.

  2. Step 2

    Informed consent

    Legal caregivers must provide informed consent for participation. If the patient is 13 years or older, they must also consent.

    Consent includes agreement to use effective contraception or abstain from sexual activity during the study and for 3 months after treatment.

  3. Step 3

    Treatment phase

    The treatment involves the administration of Rapamune 1 mg/mL oral solution, which contains the active substance sirolimus. This medication is taken orally.

    The primary goal is to assess the safety and tolerability of rapamycin in treating drug-resistant epilepsy associated with mTOR pathway activation.

  4. Step 4

    Monitoring and follow-up

    During the treatment phase, the incidence of adverse reactions will be monitored. The goal is to achieve a reduction in seizures by at least 50%.

    Secondary assessments include the severity of adverse reactions and the impact on laboratory test results. The study also evaluates the maintenance of short-term effects and improvement in quality of life for at least 50% of patients and their families.

  5. Step 5

    Completion

    The study is estimated to conclude by January 31, 2027. The final assessments will determine the overall safety and efficacy of the treatment.

Who can join the trial?

5 criteria

  • The patient must be between 4 months and 18 years old.
  • The patient must have a diagnosis of drug-resistant epilepsy. This means that the epilepsy does not respond to medications. It should have a focal onset, which means the seizures start in one specific area of the brain. There should be a confirmed or suspected presence of mTORopathy on an MRI scan. This includes conditions like focal cortical dysplasia (FCD), hemimegalencephaly, or LEATs. The patient should have had at least 8 seizures in the 4 weeks before joining the study.
  • The patient's legal caregivers must give informed consent for the patient to participate in the study. If the patient is 13 years or older, they must also agree to participate.
  • If the patient is of reproductive age, they must have a negative pregnancy test result within 2 weeks before starting the study.
  • If the patient is sexually active, they must agree to use effective contraception or commit to abstaining from sexual activity during the study and for 3 months after the treatment ends.

Who cannot join the trial?

4 criteria

  • Individuals who do not have **epilepsy** or related conditions like **mTORopathies**, **focal cortical dysplasia**, or **LEATS** cannot participate. These are specific brain conditions that affect how the brain works.
  • People who are not between the ages of 2 and 18 years old are excluded. This means only children and teenagers can participate.
  • Both males and females can participate, so gender is not a reason for exclusion.
  • Individuals who are not part of a vulnerable population are excluded. This means the study is looking for participants who may have special health needs or conditions.
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Investigated drugs

Rapamycin is being studied for its safety and effectiveness in treating drug-resistant epilepsy in children. This medication is being tested in children who have rare and very rare diseases of the central nervous system. These diseases are linked to the activation of a specific pathway in the body known as the mTOR pathway. The goal of using Rapamycin in this trial is to see if it can help manage epilepsy that does not respond to other treatments.

What is already known about the treatment

Rapamycin – Rapamycin is administered orally, typically in tablet or capsule form. It is currently being studied in clinical trials for its potential use in treating drug-resistant epilepsy, particularly in children with rare central nervous system disorders linked to the mTOR pathway. The main therapeutic indication is for epilepsy associated with conditions like mTORopathies and focal cortical dysplasia. At the molecular level, rapamycin works by inhibiting the mTOR pathway, which is involved in cell growth and proliferation. It is classified pharmacologically as an mTOR inhibitor.

Investigated diseases

  • Epilepsy

    A neurological disorder characterized by recurrent, unprovoked seizures. These seizures are caused by sudden, excessive electrical discharges in a group of brain cells. The condition can vary in severity, with some individuals experiencing brief and nearly undetectable episodes, while others have prolonged and severe convulsions. Over time, epilepsy can affect a person's safety, daily activities, and quality of life.

  • mTORopathies

    A group of disorders caused by abnormal activation of the mTOR signaling pathway, which is crucial for cell growth and metabolism. These conditions can lead to various neurological symptoms, including seizures, developmental delays, and intellectual disabilities. The progression of mTORopathies can vary widely, with some individuals experiencing mild symptoms and others facing significant challenges.

  • Focal Cortical Dysplasia

    A brain malformation where neurons in a specific area of the cerebral cortex are abnormally organized. This condition often leads to drug-resistant epilepsy, with seizures originating from the affected brain region. The severity and frequency of seizures can differ among individuals, impacting their daily life and cognitive functions.

  • LEATS (Long-term Epileptiform Activity in Temporal lobe Sclerosis)

    A condition associated with chronic epileptic activity in the temporal lobe of the brain. It is often linked to structural changes in the brain tissue, leading to persistent seizures. Over time, LEATS can affect memory, behavior, and overall cognitive abilities, depending on the extent of the temporal lobe involvement.

Trial detailsLast updated 7 Oct 2026
Age0-17PhasePhase IITrial ID2024-515950-25-00Protocol codeBraimTOR-NEUROEstimated enrolment50 patientsSponsorInstytut Pomnik Centrum Zdrowia Dziecka

sourced from the EU Clinical Trials Register and site verification

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