Stopping TSC Onset and Progression 2: Epilepsy Prevention in TSC Infants

• Register: ClinicalTrials.gov
• Last refreshed on: 3 April 2023
• Main ID: NCT04595513
• Date of registration: 06/10/2020
• Prospective Registration: No
• Primary sponsor: Children's Hospital Medical Center, Cincinnati
• Public title: Stopping TSC Onset and Progression 2: Epilepsy Prevention in TSC Infants STOP2
• Scientific title: Stopping TSC Onset and Progression 2: Epilepsy Prevention in TSC Infants
• Date of first enrolment: September 8, 2020
• Target sample size: 5
• Recruitment status: Completed
• URL: https://clinicaltrials.gov/show/NCT04595513
• Study type: Interventional
• Study design: Allocation: N/A. Intervention model: Single Group Assignment. Primary purpose: Prevention. Masking: None (Open Label).
• Phase: Phase 1/Phase 2

Countries of recruitment

United States

Contacts

• Name: Darcy Krueger, MD, PhD
• Affiliation: Children's Hospital Medical Center, Cincinnati

Key inclusion & exclusion criteria

Inclusion Criteria:

- 0-6 months of age at the time of enrollment (randomization and treatment initiation
must occur before 7 months of age and infants born prematurely must have a corrected
age of at least 39 weeks, calculated by subtracting the number of weeks born before 40
weeks gestation from the actual chronological age, in weeks)

- Has a confirmed diagnosis of TSC based on established clinical or genetic criteria

Exclusion Criteria:

- Prior history of seizures (clinical or electrographic) at the time of enrollment or
identified on baseline EEG

- 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

- Has taken any other investigational drug as part of another research study, within 30
days prior to the baseline screening visit

- Has a significant illness or active infection at the time of the baseline screening
visit

- 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)

- 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

- Prior, planned or anticipated neurosurgery within 3 months of the baseline visit

- Has a TSC-associated condition for which mTOR treatment is clinically indicated (i.e.
SEGA or AML)

- Subjects who are, in the opinion of the investigator, unable to comply with the
requirements of the study



Age minimum: 1 Day
Age maximum: 6 Months
Gender: All

Health Condition(s) or Problem(s) studied

Epilepsy

Tuberous Sclerosis Complex

Intervention(s)

Drug: TAVT-18 (sirolimus)

Primary Outcome(s)

Efficacy - time to seizure onset [Time Frame: 12 months of age]

Safety - adverse events [Time Frame: 12 months of age]

Secondary Outcome(s)

Seizure frequency [Time Frame: 12 and 24 months of age]

Precision dosing accuracy [Time Frame: 12 months of age]

Treatment disruption due to adverse events [Time Frame: 12 months of age]

Seizure type [Time Frame: 12 and 24 months of age]

TAND severity assessed by the TAND-L Checklist [Time Frame: 12 and 24 months of age]

Age at seizure onset [Time Frame: 12 and 24 months of age]

Adaptive behavior assessed by the the VABS [Time Frame: 12 and 24 months of age]

Global neurodevelopment assessed by the Bayley Scales of Infant Development [Time Frame: 12 and 24 months of age]

Treatment discontinuance due to adverse events [Time Frame: 12 months of age]

Secondary ID(s)

2019-1045

Source(s) of Monetary Support

Please refer to primary and secondary sponsors