Tuberous Sclerosis Complex

What is this Special Interest Group about?

In recent years, several clinical trials were carried out in TSC-associated epilepsy. The broad spectrum of these trials included new medications for drug-resistant seizures, preventive strategies, and management of the neuropsychiatric comorbidities in TSC. As a result, mTOR inhibitor, everolimus, and cannabidiol were approved for drug-resistant epilepsy in TSC. Close EEG monitoring and early intervention with vigabatrin is widely used in infants with TSC. Despite this progress, TSC is still associated with high risk of drug-resistant seizures and neurodevelopmental disorders. Moreover, the clinical practices in individual centres differ and the existing European consensus on the management of TSC-associated epilepsy does not include the results of the newest trials.

The group will closely cooperate with the EPAG (E-TSC). We will also invite the leaders of the ongoing clinical trials in TSC to collaborate.

Leaders

Pr. Rima Nabbout, MD, PhD

Hôpital Necker – Enfants Malades

Paris, France

Pr. Katarzyna Kotulska-Jóźwiak

Children’s Memorial Health Institute

Warsaw, Poland

The main goals

The TSC group focus on:

integration of the existing knowledge on medical and other treatment of TSC-associated epilepsy and the existing guidelines and recommendations
integration of the existing knowledge on the biomarkers of TSC-associated epilepsy and its neuropsychiatric comorbidities
development of new European consensus on the management of TSC-associated epilepsy
identification of the unmet needs of patients with TSC and epilepsy
a comprehensive analysis of the methodology and results of the available (past and ongoing) commercial and non-commercial clinical trials in TSC-associated epilepsy
use of novel statistical methodologies in clinical trials in TSC-associated epilepsy, based on the results of the EPISTOP-IDEAL project and available data
concepts of the clinical trial design and methodology in TSC-associated epilepsy
concepts of the design and methodology for clinical trials aimed to prevent epilepsy in TSC

Special Interest Groups