Preventive Treatment in Tuberous Sclerosis Complex Lowers Risk for Refractory Epilepsy


Patients whose EEG changes were monitored prior to onset of clinical seizures and who were given preventive therapy demonstrated a lower risk of epilepsy overall, especially drug-refractory.

Preventive treatment with antiepileptic drugs in patients with tuberous sclerosis complex (TSC) may lower the risk of developing epilepsy, especially drug-resistant epilepsy, and may improve neuropsychological outcomes, according to interim results of 3 prospective, controlled studies focused on prevention of epilepsy in TSC.

The data were presented at the 2019 International Epilepsy Congress, June 22-26, in Bangkok, Thailand.

Currently, 3 studies have been performed to explore the potential for preventive therapy in patients with TSC, of whom approximately 80% develop epilepsy that is frequently treatment-refractory. In addition to epilepsy, TSC is also strongly associated with neuropsychiatric comorbidities, including intellectual disability and autism. The studies included a long-term open label trial, a multicenter, randomized trial comparing preventive versus standard care (EPISTOP; NCT02098759), and a multicenter, open-label trial comparing preventive and standard care (EPIMARKER; NCT03486366).

Based on data that suggest seizures in TSC are preceded by epileptogenic changes on EEG, the investigators, led by Sergiusz Jozwiak, MD, PhD, of the Medical University of Warsaw in Poland, hypothesized that these early changes may be a useful biomarker in early prevention studies.

In EPISTOP, 100 patients were randomly assigned to 1 of 2 groups: (A) those diagnosed after subclinical EEG, and those who will be diagnosed with epilepsy following presentation of clinical seizure (B). In the EPIMARKER study, 120 patients participated in a non-randomized trial to help develop and verify tools and early detection of drug-resistant epilepsy.

Ultimately, infants with TSC up to age 4 months were included in the studies. Across the board, benefits were seen with early EEG monitoring and preventive treatment of epilepsy in patients with TSC. Those who were monitored before the onset of clinical seizures and who were treated preventively demonstrated a significantly lower risk for epilepsy overall, as well as drug-resistant seizures. They also showed improved neuropsychological outcomes.

Notably, results of the long-term study suggest that the benefits of preventive treatment persist well into school age.

Overall, “Antiepileptic treatment before the onset of clinical seizures improves prognosis in infants with TSC.”

For more coverage of IEC 2019, click here.


Jozwiak S, Aronica E, Curatolo P, et al. Prevention of epilepsy and its comorbidities in tuberous sclerosis complex. Presented at: 2019 International Epilepsy Congress. June 22-26, 2019; Bangkok, Thailand.

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