Demontration project in the European Joint Programme on Rare Diseases (EJP RD)
This demonstration project aims to show the usability and capability of the recently developed innovative statistical methodologies for clinical trials in rare diseases. We do not re-analyze or question the original analysis of data from the randomized controlled clinical trials, but rather re-evaluate data that lacked efficiency because it was analyzed with classical statistical methodology.
In this context we investigate tuberous sclerosis complex (TSC), affecting 1 in 6.000 live births, which is characterized by the development of multisystem tumors. A previous randomized clinical trial (EPISTOP) aimed to validate the effect of preventive therapy in patients with TSC diagnosed before clinical seizures with abnormal EEG, versus late standard therapy of epilepsy, administered after the seizure onset. This preventive therapy resulted in a significant better outcome in seizures and co-morbidities. However, this trial included few patients and did not allow to fully explore the secondary endpoints. In the project our aim is to demonstrate the added value of new methodologies in TSC for an optimal use of all available data (RCT, observational and external data collected with the same protocol).