Abstract
Treating epilepsy in tuberous sclerosis with everolimus: getting closer.
Highlights
Everolimus Treatment of Refractory Epilepsy in Tuberous Sclerosis Complex
The molecular mechanism of tuberous sclerosis complex (TSC) is hyperactivity of the “mammalian target of rapamycin” pathway, which is felt to be responsible for both the hamartomas and epilepsy [1]. mTOR is a protein kinase that regulates cell growth, proliferation, and survival, as well as expression of neurotransmitter receptors, synaptic plasticity, and axonal and dendritic morphology
Most clinical investigations have been done with everolimus, a rapamycin analog that was originally FDA approved for immunosuppression to prevent organ rejection following renal and cardiac transplantation, and as treatment for metastatic renal cell carcinoma
Summary
Everolimus Treatment of Refractory Epilepsy in Tuberous Sclerosis Complex. Krueger DA, Wilfong AA, Holland-Bouley K, Anderson AE, Agricola K, Tudor C, Mays M, Lopez CM, Kim MO, Franz DN. Early treatment with rapamycin was shown to prevent premature death and development of epilepsy in experimental models of TSC such as the TSC1GFAP conditional knockout mouse [4], leading to investigation of mTOR inhibitors as therapy for human TSC. Marked regression of SEGAs within 3 months of treatment was demonstrated in an open study [5], and confirmed in a large, international, multicenter, double-blind, placebo-controlled phase III trial [6].
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