When is everolimus indicated in TSC?

Everolimus is approved for TSC-associated SEGA (any size if progressive or ≥3 cm), renal AML (≥3 cm), and pulmonary LAM. Target trough levels are 5–15 ng/mL for SEGA/AML and 5–10 ng/mL for LAM.

What distinguishes TSC1 from TSC2 phenotypes?

TSC2 mutations cause more severe phenotypes: larger and more numerous tubers, higher seizure burden, more AML/SEGA, and lower IQ compared to TSC1 mutations. TSC2 also more often presents de novo (~66%).

Tuberous Sclerosis Complex Severity and mTOR Eligibility

Score tuberous sclerosis complex (TSC) organ involvement across SEGA, angiomyolipomata, pulmonary LAM, epilepsy severity, and neurodevelopmental domains to guide everolimus/sirolimus (mTORC1 inhibitor) therapy.

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Tuberous Sclerosis Complex Severity and mTOR Eligibility

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Frequently Asked Questions

When is everolimus indicated in TSC?

What distinguishes TSC1 from TSC2 phenotypes?