Variant of the Human Sv2a Protein and the Influence Thereof on the Epilepsy Treatment Response

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This invention identifies a genetic variant (specifically, a splice variant due to a single nucleotide polymorphism) in the human SV2A protein that affects patient response to epilepsy treatment, particularly with the drug levetiracetam and related compounds. By detecting this variant in a patient's DNA or protein sequence, clinicians can predict whether a patient is likely to respond to certain anti-epileptic drugs. The invention also includes methods and kits for identifying this variant and developing new pharmaceuticals that can target both the wild-type and variant forms of SV2A for better epilepsy treatment outcomes.

Use CasesContent extracted from patent full text and abstract with AI.

• Pre-treatment genetic screening of epilepsy patients to predict drug response, thus customizing therapy for optimal results.
• Development of diagnostic kits for determining the SV2A genotype from blood or tissue samples.
• Screening and development of new anti-epileptic drugs that are effective for patients with the SV2A variant.
• Improved clinical trial design by stratifying patients according to their SV2A genotype, increasing trial efficiency for new epilepsy treatments.
• Application of similar genotype-based prediction strategies for other neurological or seizure-related disorders targets involving SV2A.

BenefitsContent extracted from patent full text and abstract with AI.

• Enables personalized medicine by tailoring epilepsy treatment to the patient’s genetic background, reducing trial-and-error in drug prescription.
• Prevents unnecessary exposure to ineffective drugs, minimizing side effects and healthcare costs.
• Increases the probability of successful seizure control, especially for patients with 'difficult-to-treat' epilepsy.
• Facilitates the discovery of new drugs that work specifically in genetically defined patient subgroups, addressing unmet medical needs.
• Improves overall patient outcomes and quality of life by providing more effective and targeted therapies.

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Inventors & Applicants

Patent Abstract

The invention relates to a variant of the human synaptic vesicular protein SV2A (SV2A variant) and to a method for identifying said variant and the DNA coding therefor. Said identification process is used to predict the efficacy of defined anti-epileptic agents. The invention also relates to methods for identifying anti-epileptic active ingredients which react with said SV2A mutants, and to methods for treating epileptics, using the SVA2 variant.