About Tuberous Sclerosis Complex
Tuberous sclerosis complex (TSC) is a multi-system genetic disorder caused by mutations in TSC1 or TSC2, encoding hamartin and tuberin respectively, which together regulate the mTOR signaling pathway. Loss of function leads to benign tumors (hamartomas) in multiple organs including the brain (cortical tubers, subependymal nodules, SEGA), kidneys (angiomyolipomata), lungs (LAM), and skin. Neurological manifestations include epilepsy, intellectual disability, autism spectrum disorder, and ADHD.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Tuberous Sclerosis Complex trials.
TSC1 versus TSC2 mutation affects phenotype severity — TSC2 mutations are generally more severe; genotype must be documented
mTOR inhibitors (everolimus, sirolimus) are approved for SEGA, renal AML, and pulmonary LAM — prior mTOR inhibitor use and current blood levels must be documented
Seizure frequency, type, and current antiseizure medication regimen are key eligibility determinants for epilepsy trials
TSC-associated neuropsychiatric disorders (TAND) assessment scores are eligibility and outcome measures for behavioral trials
Patient Resources
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