NCT05104983

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

• Status: Recruiting
• Phase: Phase 2
• Study type: Interventional
• Enrollment: 64 (estimated)
• Sponsor: Darcy Krueger · Academic / Other
• Sex: All
• Age: 1 Day – 6 Months
• Healthy volunteers: Not accepted

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).

Detailed 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.

Conditions

• Tuberous Sclerosis Complex
• Epilepsy

Interventions

Type	Name	Description
DRUG	Sirolimus	The investigational drug product to be used in this study is sirolimus, provided in oral suspension.
DRUG	Placebo	Matching placebo

Timeline

• Start date: 2021-10-13
• Primary completion: 2026-06-30
• Completion: 2027-06-30
• First posted: 2021-11-03
• Last updated: 2026-01-22

Locations

11 sites across 1 country: United States

Regulatory

• FDA-regulated drug study