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

NCT ID: NCT05104983

Last Updated: 2026-01-22

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

RECRUITING

Clinical Phase

PHASE2

Total Enrollment

64 participants

Study Classification

INTERVENTIONAL

Study Start Date

2021-10-13

Study Completion Date

2027-06-30

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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).

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Tuberous Sclerosis Complex Epilepsy

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Allocation Method

RANDOMIZED

Intervention Model

PARALLEL

This trial will employ a randomized, double-blind, placebo-controlled multisite design to evaluate the safety and efficacy of early sirolimus treatment to prevent or delay seizure onset in TSC infants.
Primary Study Purpose

PREVENTION

Blinding Strategy

TRIPLE

Participants Caregivers Investigators

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Sirolimus

Sirolimus

Group Type EXPERIMENTAL

Sirolimus

Intervention Type DRUG

The investigational drug product to be used in this study is sirolimus, provided in oral suspension.

Placebo

Placebo

Group Type PLACEBO_COMPARATOR

Placebo

Intervention Type DRUG

Matching placebo

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

Sirolimus

The investigational drug product to be used in this study is sirolimus, provided in oral suspension.

Intervention Type DRUG

Placebo

Matching placebo

Intervention Type DRUG

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

1. 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).
2. Has a confirmed diagnosis of TSC based on established clinical or genetic criteria

Exclusion Criteria

1. Prior history of seizures (clinical or electrographic) at the time of enrollment or identified on baseline EEG.
2. 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.
3. Has taken any other investigational drug as part of another research study, within 30 days prior to the baseline screening visit.
4. Has a significant illness or active infection at the time of the baseline screening visit
5. 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).
6. 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.
7. Prior, planned or anticipated neurosurgery within 3 months of the baseline visit
8. Has a TSC-associated condition for which mTOR treatment is clinically indicated (i.e. SEGA or AML).
9. Subjects who are, in the opinion of the investigator, unable to comply with the requirements of the study.
Minimum Eligible Age

1 Day

Maximum Eligible Age

6 Months

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

Darcy Krueger

OTHER

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Darcy Krueger

IND Sponsor/Lead Principal Investigator

Responsibility Role SPONSOR_INVESTIGATOR

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

Darcy A Krueger, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Children's Hospital Medical Center, Cincinnati

Martina Bebin, MD, MPA

Role: PRINCIPAL_INVESTIGATOR

University of Alabama at Birmingham

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

University of Alabama at Birmingham

Birmingham, Alabama, United States

Site Status RECRUITING

University of California at Los Angeles

Los Angeles, California, United States

Site Status RECRUITING

Stanford University

Palo Alto, California, United States

Site Status RECRUITING

Children's Hospital Colorado

Aurora, Colorado, United States

Site Status RECRUITING

Lurie Children's Hospital of Chicago

Chicago, Illinois, United States

Site Status RECRUITING

Boston Children's Hospital

Boston, Massachusetts, United States

Site Status RECRUITING

Washington University -- St. Louis

St Louis, Missouri, United States

Site Status RECRUITING

University of North Carolina at Chapel Hill

Chapel Hill, North Carolina, United States

Site Status ACTIVE_NOT_RECRUITING

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, United States

Site Status RECRUITING

University of Texas HSC at Houston

Houston, Texas, United States

Site Status RECRUITING

Seattle Children's Hospital

Seattle, Washington, United States

Site Status RECRUITING

Countries

Review the countries where the study has at least one active or historical site.

United States

Central Contacts

Reach out to these primary contacts for questions about participation or study logistics.

Molly S Griffith, BA

Role: CONTACT

513-636-9669

Jessica Krefting, RN

Role: CONTACT

256-533-0833

Facility Contacts

Find local site contact details for specific facilities participating in the trial.

Jessica Krefting, RN

Role: primary

Angela Martinez

Role: primary

Rayann Solidum

Role: primary

Ryan Osselborn

Role: primary

720-777-0493

Marissa Anthony

Role: backup

720-777-3119

Enrique Rojas

Role: primary

312-227-2532

Sofia Mirshed

Role: backup

312-227-4525

Sahana Raman

Role: primary

Olga Novak

Role: primary

Molly S Griffith, BA

Role: primary

513-636-9669

Mariam Lugo Noguera

Role: primary

Mikaela Morales

Role: primary

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

1R01FD007275

Identifier Type: FDA

Identifier Source: secondary_id

View Link

2021-0438

Identifier Type: -

Identifier Source: org_study_id

More Related Trials

Additional clinical trials that may be relevant based on similarity analysis.

Sirolimus for the Treatment of Hyperinsulinism
NCT02524639 WITHDRAWN PHASE1/PHASE2