Preventing seizures in infants with Tuberous Sclerosis Complex using sirolimus
Stopping TSC Onset and Progression 2B: Sirolimus TSC Epilepsy Prevention Study
This study is testing if a medication called sirolimus can help prevent seizures in infants with Tuberous Sclerosis Complex.
Quick facts
| Phase | Phase 2 |
|---|---|
| Study type | Interventional |
| Enrollment | 64 (estimated) |
| Ages | 1 Day to 6 Months |
| Sex | All |
| Sponsor | Children's Hospital Medical Center, Cincinnati Academic / other |
| Locations | 11 sites (Birmingham, Alabama and 10 other locations) |
| Trial ID | NCT05104983 on ClinicalTrials.gov |
What this trial studies
This Phase II trial is a randomized, double-blind, placebo-controlled study aimed at evaluating the safety and efficacy of sirolimus in preventing or delaying seizure onset in infants diagnosed with Tuberous Sclerosis Complex (TSC). The study focuses on infants aged 0-6 months and utilizes a mechanism-based therapeutic approach targeting the mTOR signaling pathway, which is dysregulated in TSC. By administering sirolimus, the trial seeks to determine if early intervention can improve long-term neurodevelopmental outcomes for this high-risk population.
Who should consider this trial
Good fit: Ideal candidates for this study are infants aged 0-6 months with a confirmed diagnosis of Tuberous Sclerosis Complex.
Not a fit: Patients who have a prior history of seizures or are currently receiving anticonvulsant medications will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide a new preventive treatment option for infants with TSC, potentially improving their neurodevelopmental outcomes.
How similar studies have performed: While this approach is novel in the context of TSC, previous studies have shown promise in using mTOR inhibitors for related conditions, suggesting potential for success.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Birmingham, Alabama and 10 other locations
- University of Alabama at Birmingham — Birmingham, Alabama, United States (Recruiting)
- University of California at Los Angeles — Los Angeles, California, United States (Recruiting)
- Stanford University — Palo Alto, California, United States (Recruiting)
- Children's Hospital Colorado — Aurora, Colorado, United States (Recruiting)
- Lurie Children's Hospital of Chicago — Chicago, Illinois, United States (Recruiting)
- Boston Children's Hospital — Boston, Massachusetts, United States (Recruiting)
- Washington University -- St. Louis — St Louis, Missouri, United States (Recruiting)
- University of North Carolina at Chapel Hill — Chapel Hill, North Carolina, United States (Active_not_recruiting)
- Cincinnati Children's Hospital Medical Center — Cincinnati, Ohio, United States (Recruiting)
- University of Texas HSC at Houston — Houston, Texas, United States (Recruiting)
- Seattle Children's Hospital — Seattle, Washington, United States (Recruiting)
Study contacts
- Principal investigator: Darcy A Krueger, MD, PhD — Children's Hospital Medical Center, Cincinnati
- Study coordinator: Molly S Griffith, BA
- Email: info@tscsteps.org
- Phone: 513-636-9669
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.