The Role of Genetic Factors in the Development of Epilepsy in the Kazakh Population

Completed

• Conditions: Epilepsy
• Interventions: Genetic: DNA analysis

• Registration Number: NCT05088499
• Lead Sponsor: Asfendiyarov Kazakh National Medical University

Brief Summary

This is a GWAS study that aims to identify possible candidate genes associate to epilepsy by exploring single nucleotide polymorphism (SNP) in a group of epilepsy, in the Kazakh population. The investigators hypothesize that the careful phenotyping of the subject sand matching with increase the power to find SNP significantly associate with epilepsy

Detailed Description

A genome-wide association study (GWAS) is an approach used in genetics research to associate specific genetic variations with particular diseases. The method involves scanning the genomes from many different people and looking for genetic markers that can be used to predict the presence of a disease. Once such genetic markers are identified, they can be used to understand how genes contribute to the disease and develop better prevention and treatment strategies

Study Timeline

• Study First Submitted: 2021-09-25
• Study First Submitted QC: 2021-10-21
• Study First Posted: 2021-10-22
• Study Start: 2022-02-01
• Primary Completion: 2023-01-20
• Study Completion: 2023-01-20
• Status Verified: 2023-03
• Last Update Submitted: 2023-03-13
• Last Update Posted: 2023-03-14

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 600

Inclusion Criteria

• Children with seizures, confirmed by EEG and no morphological damage to the brain, confirmed by MRI of the brain;
• The age of the patients is from 0 to 5 years;
• Persons of Kazakh nationality, whose paternal and maternal grandparents are Kazakhs;
• Children are parents or legal guardians who have given written informed consent.

Exclusion Criteria

• Children over 5 years old;
• Children whose parents, according to the researcher, are mentally or legally incapacitated, which prevents obtaining informed consent;
• Children with seizures with brain damage that cause epilepsy;
• Children of a non-Kazakh ethnic group.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Experimental group:	DNA analysis	Patients with epilepsy
Control group	DNA analysis	Patients without epilepsy

Primary Outcome Measures

Name	Time	Method
number of SNPs associated with epilepsy	1 year	Using GWAS to identify candidate genes associate with epilepsy

Trial Locations

Locations (1)

Altynshash Jaxybayeva; 🇰🇿 Almaty, Kazakhstan