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

NCT05104983 · Children's Hospital Medical Center, Cincinnati
In plain English

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About this study
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 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.
Study design
Enrollment target: 64 participants
Allocation: randomized
Masking: triple
Age groups: child
Timeline
Starts: 2021-10-13
Estimated completion: 2027-06-30
Last updated: 2026-01-22
Interventions
Drug: SirolimusDrug: Placebo
Primary outcomes
  • Efficacy -- time to seizure onset (12 months of age)
  • Safety -- adverse events (12 months of age)
Sponsor
Darcy Krueger · other
Contacts & investigators
ContactMolly S Griffith, BA · contact · info@tscsteps.org · 513-636-9669
ContactJessica Krefting, RN · contact · info@tscsteps.org · 256-533-0833
InvestigatorDarcy A Krueger, MD, PhD · principal_investigator, Children's Hospital Medical Center, Cincinnati
InvestigatorMartina Bebin, MD, MPA · principal_investigator, University of Alabama at Birmingham
All locations (11)
University of Alabama at BirminghamRecruiting
Birmingham, Alabama, United States
University of California at Los AngelesRecruiting
Los Angeles, California, United States
Stanford UniversityRecruiting
Palo Alto, California, United States
Children's Hospital ColoradoRecruiting
Aurora, Colorado, United States
Lurie Children's Hospital of ChicagoRecruiting
Chicago, Illinois, United States
Boston Children's HospitalRecruiting
Boston, Massachusetts, United States
Washington University -- St. LouisRecruiting
St Louis, Missouri, United States
University of North Carolina at Chapel HillActive Not Recruiting
Chapel Hill, North Carolina, United States
Cincinnati Children's Hospital Medical CenterRecruiting
Cincinnati, Ohio, United States
University of Texas HSC at HoustonRecruiting
Houston, Texas, United States
Seattle Children's HospitalRecruiting
Seattle, Washington, United States
Stopping TSC Onset and Progression 2B: Sirolimus TSC Epilepsy Prevention Study · TrialPath