VIRAP - new randomized, double-blind, preventive study (vigabatrin vs sirolimus) on prevention of epilepsy in TSC

Objectives: Tuberous Sclerosis Complex (TSC) is an autosomal dominant genetic disease characterized by high incidence of epilepsy and neuropsychiatric comorbidities (intellectual disability and autism). Recently published studies demonstrated beneficial effect of preventive antiepileptic treatment introduced in infants with paroxysmal discharges on EEG resulting in lower incidence of epilepsy and improved neuropsychiatric outcome. Here we present a protocol of ViRap Study -new randomized, double-blind study on prevention of epilepsy in all young infants with TSC irrespectively to their EEG characteristics (EudraCT: 2020-003231-19). It is ongoing study. Termination of the study planned in 2024. Methods: Inclusion criteria for ViRap study are: age up to 3 months, definite TSC diagnosis, at least 1 dysplastic lesion in the brain. Exclusion criteria are: history of seizures prior to randomization, comorbidities that could influence the trial according to the investigator’s opinion, contraindication for MRI, rapamycin or vigabatrin. Results: The study population will be 60 infants enrolled within 3 years. Each participant will be followed for 24 months. During each study visit, the patients will undergo full pediatric and neurological examination and lab tests, and the history of seizures and adverse events will be recorded. Seizure diary will be digital, using a ViRap-dedicated application. Each patient will also be subjected to brain and abdominal MRI, videoEEG, neuropsychological assessment, ophthalmological examination, biomarker sampling, and echocardiography at selected time points. Conclusion: We expect that early implementation of preventive antiepileptic treatment should further improve the neuropsychiatric outcome of children with TSC