Skip to content
Clinical Trials – home

Rare diseases

Investigational molecules

Locations

Our offerNewsroom

Recruiting

Study on the Effects of Sirolimus and Drug Combination for Children Under 4 Months with Tuberous Sclerosis Complex

Fast replyRegistered drugNo placebo
Clinical Trials Concierge

Prefer not to search? Our Concierge searches the trials for you.

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 treatment for tuberous sclerosis complex (TSC), a rare genetic disorder that causes non-cancerous tumors to grow in the brain and other vital organs. The treatment being tested is an mTOR inhibitor called sirolimus, which is administered as an oral solution. The purpose of the study is to evaluate the long-term neuropsychological outcomes of this treatment in children under 4 months of age who have been diagnosed with TSC.

Participants in the study will receive either the sirolimus treatment or a placebo, in addition to the standard care they would normally receive. The study will monitor the children's development over a period of 24 months, assessing their cognitive abilities using a tool called the Bayley Scales of Infant and Toddler Development III (BSID-III). This will help determine if the treatment has a positive impact on their neuropsychological development compared to standard care alone.

Throughout the study, various aspects of the children's health will be closely monitored, including their behavior, signs of autism spectrum disorder, and any changes in seizure frequency. The study will also look at the size and number of tumors in the brain and heart, as well as any potential side effects of the treatment. The goal is to gather comprehensive data on the safety and effectiveness of sirolimus in improving the quality of life for children with tuberous sclerosis complex.

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

    Enrollment

    The child must be under 4 months of age with a confirmed diagnosis of tuberous sclerosis complex (TSC) according to the 2021 criteria.

    Legal guardians must provide signed informed consent before any study-specific procedures begin.

  2. Step 2

    Randomization and treatment initiation

    Randomization and treatment must occur before the child reaches 4 months of age.

    If the child was born prematurely, the corrected age must be at least 39 weeks.

  3. Step 3

    Treatment phase

    The child will receive a medication called Rapamune (sirolimus) as an oral solution.

    The dosage and frequency will be determined by the study protocol and the child's specific needs.

  4. Step 4

    Monitoring and assessments

    Regular assessments will be conducted to monitor the child's neuropsychologic development using the Bayley Scales of Infant and Toddler Development III (BSID-III).

    Additional assessments will include adaptive behavior, evidence for autism spectrum disorder, and TSC-associated neuropsychiatric disorders.

    Seizure frequency and severity will be monitored through diaries, questionnaires, and EEG recordings.

    Imaging studies such as cranial MRI and abdominal sonography will be performed to assess changes in tumors and other organs.

  5. Step 5

    Follow-up

    The primary outcome will be assessed at 24 months of age, focusing on neuropsychologic development.

    Secondary outcomes will be evaluated at 12 and 24 months, including cognitive and adaptive behavior assessments, and evidence for autism spectrum disorder.

    The study will also monitor for any adverse events throughout the trial duration.

Who can join the trial?

3 criteria

  • The patient must have a definite diagnosis of Tuberous Sclerosis Complex (TSC). This is a genetic condition that can cause growths in different parts of the body.
  • The patient must be less than 4 months old at the time of joining the study. This means that the process of joining and starting treatment must happen before the baby is 4 months old. If the baby was born early, their age should be adjusted to at least 39 weeks. This is done by subtracting the number of weeks they were born early from 40 weeks, which is the usual time for a full-term pregnancy.
  • The legal guardian(s) of the patient must sign a form giving their permission for the patient to take part in the study before any study-related procedures begin.

Who cannot join the trial?

4 criteria

  • Patients who do not have Tuberous Sclerosis Complex (TSC) cannot participate. TSC is a genetic disorder that causes non-cancerous tumors to grow in the brain and other parts of the body.
  • Patients who are not within the specified age range for the study cannot participate. The study is for a specific age group.
  • Patients who do not meet the gender requirements for the study cannot participate. The study includes both male and female participants.
  • Patients who are not part of the vulnerable population selected for the study cannot participate. A vulnerable population may include groups like children or those with certain health conditions.
Clinical Trials Concierge

Prefer not to search? Our Concierge searches the trials for you.

Tell us about your condition – we search every trial in Europe and connect you with the right site.

We usually reply within a few days

Verified sites

All sites with verified contact details – recruitment status may not be available; ask directly

Trial locations

Where you can join this trial

Countries are shaded by recruitment status. Click a recruiting country to ask about joining there.

Recruiting
Not finding your country?

Not sure what to do next?

Joining a clinical trial can seem overwhelming. We guide you step by step, so you know exactly what to expect and how we support you through the process.

See the full process and FAQ

Investigated drugs

mTOR Inhibitor This medication is used in the trial to see if it can help improve neuropsychological outcomes in young children with tuberous sclerosis complex. It works by blocking a specific pathway in the body that is involved in cell growth and development. The goal is to see if starting this treatment early can lead to better cognitive development in these children.

What is already known about the treatment

Everolimus – This medication is administered orally and is used in the treatment of tuberous sclerosis complex (TSC). It is currently recognized in medical literature as an mTOR inhibitor, which is a type of drug that blocks a specific protein involved in cell growth and proliferation. Everolimus is primarily indicated for conditions where abnormal cell growth is a concern, such as TSC. By inhibiting the mTOR pathway, it helps to reduce the size and number of tumors associated with this condition. It is classified pharmacologically as an immunosuppressant and antineoplastic agent.

Investigated diseases

Tuberous sclerosis complex – Tuberous sclerosis complex (TSC) is a genetic disorder that causes non-cancerous tumors to form in many different organs, primarily the brain, eyes, heart, kidney, skin, and lungs. The disease is caused by mutations in the TSC1 or TSC2 genes, which lead to uncontrolled cell growth. Symptoms can vary widely among individuals, even within the same family, and may include skin abnormalities, seizures, developmental delays, and behavioral problems. As the disease progresses, individuals may experience an increase in the number and size of tumors, which can affect organ function. Neurological symptoms, such as seizures and cognitive impairment, are common and can impact quality of life. The severity and progression of symptoms can differ significantly from person to person.
Trial detailsLast updated 7 Oct 2026
Age0-17PhasePhase IITrial ID2022-502332-39-00Protocol codePROTECTEstimated enrolment64 patientsSponsorUniversitaetsklinikum Heidelberg AöR

sourced from the EU Clinical Trials Register and site verification

Want to learn more about this trial or check if you can participate?

Clinical Trials Concierge

Prefer not to search? Our Concierge searches the trials for you.

Tell us about your condition – we search every trial in Europe and connect you with the right site.