Stopping TSC Onset and Progression 2B: Sirolimus TSC Epilepsy Prevention Study
Darcy Krueger
Summary
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).
Description
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.
Eligibility
- Age range
- 0–0 years
- Sex
- All
- Healthy volunteers
- No
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…
Interventions
- DrugSirolimus
The investigational drug product to be used in this study is sirolimus, provided in oral suspension.
- DrugPlacebo
Matching placebo
Locations (11)
- University of Alabama at BirminghamBirmingham, Alabama
- University of California at Los AngelesLos Angeles, California
- Stanford UniversityPalo Alto, California
- Children's Hospital ColoradoAurora, Colorado
- Lurie Children's Hospital of ChicagoChicago, Illinois
- Boston Children's HospitalBoston, Massachusetts