ClinicalTrials.gov record NCT05104983

Stopping TSC Onset and Progression 2B: Sirolimus TSC Epilepsy Prevention Study

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 17, 2026

Stopping TSC Onset and Progression 2B: Sirolimus TSC Epilepsy Prevention Study

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeInterventionalA study in which researchers assign participants to one or more interventions, such as a drug, procedure, device, behavioural programme or other approach, to measure their effects.
PhasePhase 2A study that tests whether a treatment has the intended effect and continues to check safety, usually in a larger group than phase 1.
AgeChildren up to about 6 months old
SexAll
LocationUnited States
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This Phase II, randomized, placebo-controlled study tests oral sirolimus given to very young infants with TSC to see if it can prevent or delay the first seizures and to assess safety. The trial compares sirolimus with a matching placebo and includes developmental, EEG, MRI, and quality-of-life assessments. The primary outcomes are measured by 12 months of age, with additional measures at 24 months.

What it is studying. Whether giving oral sirolimus to infants with TSC can prevent or delay seizure onset, and how safe it is in this age group; the study also measures effects on neurodevelopment, caregiver and patient quality of life, EEG and MRI biomarkers, and tests sirolimus dosing approaches in infants.

What the researchers hope to learn. To evaluate whether early sirolimus can prevent or delay seizure onset in infants with TSC; to assess the drug's safety in this population; to measure effects on neurodevelopment, quality of life, EEG and MRI biomarkers; and to validate sirolimus precision dosing for infants with TSC.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

This trial is a Phase II randomized, double-blind, placebo controlled multi-site study to evaluate the safety and efficacy of early sirolimus to prevent or delay seizure onset in TSC infants. This study is supported by research funding from the Office of Orphan Products Division (OOPD) of the US Food and Drug Administration (FDA).

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Drug
  • Sirolimus
  • Placebo

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

  • 0-6 months of age at the time of enrollment (subject must be <7 months of chronological age at time of randomization and treatment initiation). Corrected age must be at least 39 weeks (calculated by subtracting the number of weeks born before 40 weeks gestation from the chronological age).
  • Has a confirmed diagnosis of TSC based on established clinical or genetic criteria

Exclusion criteria

  • Prior history of seizures (clinical or electrographic) at the time of enrollment or identified on baseline EEG.
  • Has been treated in the past or is currently being treated at the time of enrollment with conventional anticonvulsant medications (AEDs), systemic (oral) mTOR inhibitors (such as rapamycin, sirolimus, or everolimus), ketogenic-related special diet, or another anti-seizure therapeutic agent, device, or procedure.
  • Has taken any other investigational drug as part of another research study, within 30 days prior to the baseline screening visit.
  • Has a significant illness or active infection at the time of the baseline screening visit
  • Has a history of significant prematurity, defined as gestational age <30 weeks at the time of delivery, or other significant medical complications at birth or during the neonatal period that other than TSC would convey additional risk of seizures or neurodevelopmental delay (i.e. HIE, severe neonatal infection, major surgery, prolonged ventilatory or other life-saving supportive care or procedures).
  • Abnormal laboratory values at baseline (i.e., renal function, liver function, or bone marrow production) that are in the opinion of the investigator clinically significant and may jeopardize the safety of the study subject.
  • Prior, planned or anticipated neurosurgery within 3 months of the baseline visit
  • Has a TSC-associated condition for which mTOR treatment is clinically indicated (i.e. SEGA or AML).
  • Subjects who are, in the opinion of the investigator, unable to comply with the requirements of the study.

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

Tuberous Sclerosis Complex (TSC) is caused by genetic mutation in TSC1 or TSC2, resulting in dysregulation of the mechanistic target of rapamycin (mTOR) signaling pathway. Age at time of seizure onset in TSC infants has been linked to long-term neurodevelopmental outcome in this high-risk population. Sirolimus is an mTOR inhibitor used to treat many of the symptoms of TSC, including epilepsy. This will be the first study to truly evaluate a targeted, disease-modifying drug therapy for preventing or delaying seizure onset in TSC using a rational, mechanism-based therapeutic approach.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants are randomized (triple-masked) to receive oral sirolimus suspension or a matching placebo. After screening (including baseline EEG and laboratory tests), families will attend regular study visits for blood tests for safety and dosing, EEGs and MRI scans, standardized neurodevelopmental assessments, and caregiver questionnaires, with outcomes assessed at 12 and 24 months of age. The study team will monitor and record any side effects or serious adverse events throughout participation.

How the study is structured. Phase II, randomized, parallel-group, triple-masked, placebo-controlled drug trial. Infants are assigned to receive oral sirolimus or matching placebo and are monitored for seizures, adverse events, developmental outcomes, quality of life, EEG and MRI changes; key outcomes are assessed by 12 months of age with additional assessments at 24 months. The study tests a precision-dosing approach for sirolimus in infants.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • Some participants receive a placebo. How is that decided, and what happens for placebo-group participants when the study ends?
  • The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on tuberous sclerosis complex

Clinical trials30 trials listed for tuberous sclerosis complexEvery trial the registry lists for tuberous sclerosis complex, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in tuberous sclerosis complex researchLatest monthly update: September 2026. Includes: CBD add-on therapy. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Oct 13, 2021
Primary completion
Jun 30, 2027 (estimated)
Study completion
Jun 30, 2028 (estimated)
Target enrollment
64 participants (estimated)
Last updated on registry
Oct 2, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Darcy Krueger

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (11)

  • University of Alabama at BirminghamRecruiting

    Birmingham, Alabama, 35294 · United States

    • Jessica Krefting, RN
    • E. Martina Bebin, MD, MPA
  • University of California at Los AngelesRecruiting

    Los Angeles, California, 90095 · United States

    • Angela Martinez
    • Rajsekar Rajamaran, MD, MS
  • Stanford UniversityRecruiting

    Palo Alto, California, 94304 · United States

  • Children's Hospital ColoradoRecruiting

    Aurora, Colorado, 80045 · United States

  • Lurie Children's Hospital of ChicagoRecruiting

    Chicago, Illinois, 60611 · United States

  • Boston Children's HospitalRecruiting

    Boston, Massachusetts, 02115 · United States

    • Sahana Raman
    • Mustafa Sahin, MD, PhD
  • Washington University -- St. LouisRecruiting

    St Louis, Missouri, 63110 · United States

    • Olga Novak
    • Michael Wong, MD, PhD
  • University of North Carolina at Chapel HillActive Not Recruiting

    Chapel Hill, North Carolina, 27510 · United States

  • Cincinnati Children's Hospital Medical CenterRecruiting

    Cincinnati, Ohio, 45229 · United States

  • University of Texas HSC at HoustonRecruiting

    Houston, Texas, 77030 · United States

    • Mariam Lugo Noguera
    • Hope Northrup, MD

Terms used on this page · explanations by MedicalUpdates.ai

randomized
Participants are assigned to the study groups by chance, like a coin toss, rather than chosen by the doctor or the participant. This is done so the groups are comparable.
double-blind
Two types of people involved in the study do not know which intervention a participant is receiving. The ClinicalTrials.gov record specifies who is masked, for example participants, care providers, investigators or outcome assessors.
placebo controlled
A study design in which one group receives a placebo so that the study treatment's effects can be compared with no active treatment.
enrollment
The number of participants a study plans to include, or has included. 'Estimated' means the planned number; 'actual' means the number who joined.
baseline
Measurements taken at the start of the study, before any study treatment, so that later results can be compared with them.
investigational drug
A treatment that is being tested and has not been approved for this use. It may be approved for a different condition. Being studied does not mean it works or is available outside the study.
screening visit
The checks done before enrolment to see whether a person qualifies, such as tests, scans or a review of medical history.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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