How is tuberous sclerosis complex (TSC) treated?

Updated: Aug 21, 2018
  • Author: David Neal Franz, MD; Chief Editor: Amy Kao, MD  more...
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Antiepileptic medications (AEDs) are the mainstay of therapy for patients with TSC. The choice of specific AED(s) for treating seizures in patients with TSC is based on the patient's seizure type(s), epilepsy syndrome(s), other involved organ systems, and age, along with AED side-effect profiles and available formulations.

The drug everolimus (Afinitor) helped to reduce kidney tumors linked to tuberous sclerosis complex (TSC) in a double-blind, placebo-controlled, phase-3 trial. The efficacy of the drug, which has been approved for use against TSC in the United States and Europe, was measured by the proportion of patients (diagnosed with tuberous sclerosis or sporadic lymphangioleiomyomatosis) in whom target angiolipomas were reduced by at least half of their total volume relative to baseline. [3, 4]

In the study, 118 patients (median age 31) from 24 centers in 11 countries received either everolimus (n=79) or placebo (n=39). Angiomyolipomas had a 42% response rate to everolimus and a 0% response rate to placebo.

In addition, everolimus has been shown to significantly reduce seizure frequency, with 28.2% of patients receiving low exposure/low dosage demonstrating 50% or greater decrease in seizures, and 40% of patients receiving high exposure/high dosage demonstrating 50% or greater decrease in seizures. [5]

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