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Study on the Effectiveness and Safety of Sirolimus for Patients with Drug-Resistant Epilepsy Linked to Tuberous Sclerosis Complex

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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 tuberous sclerosis complex (TSC), which is often associated with epilepsy and can lead to the development of organ tumors. The study is investigating the use of a treatment called rapamycin, also known by its code name sirolimus, to see if it can help manage drug-resistant epilepsy in individuals with TSC. Rapamycin is provided as an oral solution, which means it is taken by mouth in liquid form.

The purpose of this study is to evaluate the safety and effectiveness of rapamycin compared to a placebo in reducing seizures in patients with drug-resistant epilepsy linked to TSC. Participants in the study will be randomly assigned to receive either rapamycin or a placebo. The study will monitor the number of seizures participants experience and any side effects that may occur. The trial will last for a period of time, during which participants will be closely observed to gather information on how well the treatment works and how safe it is.

Throughout the study, researchers will compare the outcomes between those receiving rapamycin and those receiving the placebo. The main goal is to determine if rapamycin can significantly reduce the frequency of seizures and improve the quality of life for individuals with TSC-related epilepsy. The study will also track any adverse events, which are unwanted effects that might occur during the treatment period. This information will help in understanding the potential benefits and risks of using rapamycin for this condition.

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

    Randomization

    Upon joining the study, participants are randomly assigned to one of two groups: one receiving rapamycin and the other receiving a placebo. This process is double-blind, meaning neither the participants nor the researchers know who is receiving the actual medication.

  2. Step 2

    Treatment phase

    Participants in the treatment group receive Rapamune 1 mg/mL oral solution, which contains the active substance sirolimus. This medication is taken orally.

    The dosage and frequency of administration are determined by the study protocol and are monitored by the study team.

    Participants in the placebo group receive a solution that does not contain the active substance, but is otherwise identical in appearance and administration.

  3. Step 3

    Monitoring and assessment

    Throughout the study, participants are monitored for the number of seizures they experience each week. The goal is to assess whether there is at least a 50% reduction in seizures during the last month of the core blinded phase compared to the screening phase.

    Participants are also monitored for any adverse events, which are any unwanted effects that occur during the study. The severity and frequency of these events are recorded.

  4. Step 4

    End of treatment phase

    The treatment phase lasts for 12 weeks. During this time, the number of seizures per week and the number of days free of seizures are compared between the rapamycin and placebo groups.

    The study also evaluates the severity of any adverse events and the number of participants who withdraw from the study due to these events.

  5. Step 5

    Study conclusion

    The study is estimated to conclude by June 30, 2027. At this point, the data collected will be analyzed to determine the efficacy and safety of rapamycin in treating drug-resistant epilepsy associated with tuberous sclerosis complex.

Who can join the trial?

6 criteria

  • Parents or caregivers must be willing and able to give their permission for the patient to join the study. This is called giving informed consent.
  • Parents or caregivers must be willing and able to follow all the study rules and requirements.
  • The patient must have a confirmed diagnosis of Tuberous Sclerosis Complex (TSC). This is a genetic condition that can cause growths in different organs.
  • The patient must have drug-resistant epilepsy related to TSC, which means they have at least 8 seizures in 4 weeks despite taking medication.
  • The patient can be a boy or girl, aged from 3 months to 55 years old at the time they are chosen to participate in the study.
  • The patient must weigh at least 6 kilograms and have a proper nutritional status, which will be checked by the study doctor.

Who cannot join the trial?

8 criteria

  • Patients who do not have tuberous sclerosis complex, a genetic disorder that causes non-cancerous tumors to form in many parts of the body, cannot participate.
  • Patients who do not have epilepsy associated with tuberous sclerosis, which is a condition that causes seizures, cannot participate.
  • Patients who do not have organ tumors associated with tuberous sclerosis, which are growths in organs like the brain, heart, or kidneys, cannot participate.
  • Patients who are not in the age range of 2 to 18 years old cannot participate.
  • Patients who are not able to take the study medication safely cannot participate.
  • Patients who are pregnant or breastfeeding cannot participate.
  • Patients who have other serious health conditions that might interfere with the study cannot participate.
  • Patients who are currently participating in another clinical trial cannot participate.
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Investigated drugs

Rapamycin is being studied for its potential to help people with drug-resistant epilepsy associated with tuberous sclerosis complex. This medication is being tested to see if it can safely and effectively reduce the frequency or severity of seizures in patients who have not responded well to other treatments.

What is already known about the treatment

Rapamycin – Rapamycin is administered orally and is currently being studied in clinical trials for its effectiveness in treating drug-resistant epilepsy associated with tuberous sclerosis complex. It is primarily used to manage epilepsy and organ tumors linked to this condition. At the molecular level, rapamycin works by inhibiting a protein called mTOR, which plays a role in cell growth and proliferation. This medication is classified as an mTOR inhibitor, and its use is being evaluated for safety and efficacy in ongoing research.

Investigated diseases

  • Tuberous Sclerosis Complex

    Tuberous sclerosis complex is a genetic disorder that causes non-cancerous tumors to form in many different organs, primarily the brain, eyes, heart, kidney, skin, and lungs. These tumors can lead to a variety of symptoms, including skin abnormalities, seizures, and developmental delays. The condition is caused by mutations in either the TSC1 or TSC2 genes, which are responsible for controlling cell growth. As the disease progresses, individuals may experience an increase in the number and size of tumors, which can affect organ function. The severity and range of symptoms can vary widely among individuals, even within the same family.

  • Epilepsy Associated with Tuberous Sclerosis Complex

    This form of epilepsy occurs in individuals with tuberous sclerosis complex and is characterized by recurrent seizures. These seizures can vary in type and severity, often beginning in childhood. The presence of brain tumors associated with tuberous sclerosis can contribute to the development of epilepsy. Over time, the frequency and intensity of seizures may change, impacting daily life and development. Managing seizures is a significant aspect of care for individuals with this condition.

  • Organ Tumors Associated with Tuberous Sclerosis

    In tuberous sclerosis complex, non-cancerous tumors can develop in various organs, including the brain, kidneys, heart, and lungs. These tumors, known as hamartomas, can disrupt normal organ function depending on their size and location. As the disease progresses, the number and size of these tumors may increase, potentially leading to complications. The impact on organ function can vary, with some individuals experiencing significant symptoms while others may have minimal effects. Monitoring and managing these tumors is crucial in the care of individuals with tuberous sclerosis complex.

Trial detailsLast updated 7 Oct 2026
Age18+ yearsPhasePhase IIITrial ID2024-515937-13-00Protocol codeRaRE-TSEstimated enrolment200 patientsSponsorInstytut Pomnik Centrum Zdrowia Dziecka

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