What is the efficacy of everolimus for the treatment of tuberous sclerosis complex (TSC)?

Updated: Aug 21, 2018
  • Author: David Neal Franz, MD; Chief Editor: Amy Kao, MD  more...
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An phase I/II, prospective, open-label clinical trial studied the impact of everolimus, an mTOr inhibitor, on SEGA growth. It included patients of at least age 3 years, with tuberous sclerosis who demonstrated SEGA growth on serial MRI scans of the brain. Primary outcomes included measures of SEGA volume and type and frequency of adverse events associated with the medication. Secondary measures assessed the impact of everolimus on seizure activity, EEG characteristics of patients with SEGA, and quality-of-life and neuropsychometric measures.

Data from this study indicated that everolimus therapy was associated with marked reduction in the volume of SEGAs and seizure frequency, which suggests everolimus therapy maybe a potential alternative to neurosurgical resection in some cases. It is also indicated that everolimus therapy is associated with an improvement in quality-of-life measures and no change in neuropsychiatric parameters. Although some adverse events were associated with the everolimus treatment, 97% of these adverse events were classified as mild/moderate, and in all cases the medication was able to be resumed after recovery from adverse event symptoms. [19]

A subsequent international, prospective, double-blind, placebo-controlled phase 3 trial examining everolimus in patients with new or growing TSC-related SEGA found that 57.7% of patients who received everolimus had 50% or greater reduction in the sum volume of target SEGA lesions. Of the patients studied, 73.2% with target renal angiomyolipomas and 58.1% with skin lesions also were responders. [20]

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