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Everolimus as adjunctive therapy for tuberous sclerosis complex-associated partial-onset seizures
Lorena Lechuga1, David Neal Franz2
1Department of Neurology, Cincinnati Children's Hospital Medical Center , Cincinnati , OH , USA.
Expert Review of Neurotherapeutics
|July 24, 2019
Summary
Everolimus, an mTOR inhibitor, is an approved adjunctive therapy for tuberous sclerosis complex (TSC)-associated seizures. It targets the mTOR pathway, addressing TSC pathophysiology and other manifestations, offering potential for preventative seizure treatment.
Area of Science:
- Neuroscience
- Genetics
- Pharmacology
Background:
- Tuberous sclerosis complex (TSC) is a genetic disorder characterized by benign tumors due to TSC1/TSC2 gene mutations.
- Hyperactivation of the mammalian target of rapamycin (mTOR) pathway is a key feature of TSC.
- Epilepsy affects most TSC patients, with many becoming refractory to standard antiepileptic drugs (AEDs).
Purpose of the Study:
- To review the characteristics of everolimus as a treatment for TSC-associated seizures.
- To discuss clinical trials, safety, pharmacokinetics, and pharmacodynamics of everolimus.
- To provide an overview of competing therapies for TSC-associated seizures.
Main Methods:
- Review of major clinical trials evaluating everolimus for TSC-associated partial seizures.
- Analysis of safety data, pharmacokinetics, and pharmacodynamics of everolimus.
- Comparative overview of other agents used in TSC seizure management.
Main Results:
- Everolimus is approved as adjunctive therapy for TSC-associated partial seizures.
- Everolimus targets the underlying mTOR pathway in TSC.
- The drug has demonstrated efficacy in improving other TSC manifestations, including tumors.
Conclusions:
- Everolimus offers a potential multisystemic therapy for TSC, addressing both seizures and other disease aspects.
- Future research should explore everolimus for preventative seizure treatment in TSC.
- Everolimus represents a significant advancement in managing TSC-associated epilepsy.
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