Background
SEGA, rAML, and, epilepsy, TSC, tumour, autosomal dominant genetic disease
TUBEROUS SCLEROSIS COMPLEX, TUMOUR, EPILEPSY
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease caused by genetic variants in TSC1 [TSC treatment involves mTOR-inhibitors. These drugs block the mTOR-complex activation, reducing tumour growth, and offer a potential disease-modifying approach [The safety and efficacy of the mTOR inhibitor everolimus was studied in a series of randomised, double-blinded, placebo-controlled trials (EXIST-1–3) for the treatment of SEGA, rAML, and epilepsy [Randomized controlled trials (RCT) are the most reliable design to investigate effects on interventions, [However, the stringent trial settings in RCTs with highly selected patients and short follow up differ from the complexities in routine clinical practice [Population-based studies investigating the effectiveness and safety of mTOR inhibitors in clinical practice are limited [The aim of this study was to investigate the effectiveness and safety of treatment with everolimus in patients with TSC in real-world clinical practice.