mTOR Inhibitor Composition for PI3K-AKT-mTOR Epilepsy Mutations

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Solution Overview

Problem

Current treatments for intractable epilepsy, particularly those caused by Focal Cortical Dysplasia (FCD), Hemimegalencephaly (HME), Hippocampal Sclerosis (HS), and Sturge-Weber Syndrome (SWS), are ineffective due to a lack of understanding of the molecular genetic etiology, and existing therapies fail to address brain somatic mutations in the PI3K-AKT-mTOR pathway.

Innovation Solution

Identification of specific somatic mutations in the PI3K-AKT-mTOR pathway through deep sequencing, development of an mTOR inhibitor-based treatment, and a diagnostic kit for detecting these mutations to prevent, ameliorate, or treat intractable epilepsy.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Reliability

If surgical resection of FCD is performed, then approximately 60% of patients become seizure free, but a significant portion of FCD patients continues to have seizures

Engineering Contradiction:

Improveseizure control rateVSAvoidremaining seizure frequency

Core Design Contradiction:

ReliabilityVSProductivity

Solution Approach 1:

The patent introduces mTOR inhibitors as a pharmacological intermediary to bridge the gap between surgical resection and complete seizure control. The inhibitors target the molecular pathway (PI3K-AKT-mTOR) that is hyperactivated in FCD, providing an additional mechanism to control seizures in patients who remain symptomatic after surgery.

Inventive Principle:

Principle #24Intermediary (Mediator)

Solution Approach 2:

The patent changes the therapeutic parameter from purely mechanical (surgical resection) to biochemical (mTOR inhibition). By targeting the molecular parameters of the disease pathway, the treatment addresses the underlying molecular genetic etiology rather than just the structural abnormality.

Inventive Principle:

Principle #35Parameter changes

2Loss of information

If deep sequencing strategies are used to identify FCD-specific somatic mutations, then molecular genetic etiology can be identified, but the complexity and cost of diagnosis increases

Engineering Contradiction:

Improvemolecular genetic etiology identificationVSAvoiddiagnostic method complexity

Core Design Contradiction:

Loss of informationVSDevice complexity

Solution Approach 1:

The patent extracts and focuses specifically on mutations in the PI3K-AKT-mTOR pathway from the complex landscape of all possible genetic mutations. By concentrating diagnostic efforts on this specific pathway, the complexity of genetic analysis is reduced while still capturing the essential molecular genetic etiology of FCD.

Inventive Principle:

Principle #2Taking out (Extraction)

3Ease of manufacture

If conventional sequencing methods are used, then standard diagnostic protocols are maintained, but somatic mutations in FCD cannot be efficiently detected

Engineering Contradiction:

Improvediagnostic protocol simplicityVSAvoidmutation detection sensitivity

Core Design Contradiction:

Ease of manufactureVSMeasurement precision

Solution Approach 1:

The patent applies preliminary enrichment strategies to concentrate the rare mutant alleles before sequencing. This preliminary action increases the proportion of mutant reads in the sequencing data, enabling conventional sequencing methods to detect somatic mutations that would otherwise be missed due to their low frequency in the tissue sample.

Inventive Principle:

Principle #10Preliminary action

Data Source

PatentUS20260041692A1COMPOSITION FOR PREVENTION OR TREATMENT OF INTRACTABLE EPILEPSY COMPRISING mTOR INHIBITOR

Publication Date: 2026.02.12 SOVARGEN CO LTD

AI summary

Provided is a use of the prophylaxis, amelioration or therapy of intractable epilepsy, for example, Focal Cortical Dysplasia (FCD).