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

March 13, 2023 updated by: Ildar Fakhradiyev, Asfendiyarov Kazakh National Medical University

Preventive and Personalized Medicine (2021-2023)

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

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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 Type

Observational

Enrollment (Actual)

600

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Kazakhstan
      • Almaty, Kazakhstan
        • Altynshash Jaxybayeva

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 second to 5 years (Child)

Accepts Healthy Volunteers

N/A

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

Children of Kazakh ethnic group

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Experimental group:
Patients with epilepsy
Genetic: DNA analysis
GWAS
Control group
Patients without epilepsy
Genetic: DNA analysis
GWAS

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
number of SNPs associated with epilepsy
Time Frame: 1 year
Using GWAS to identify candidate genes associate with epilepsy
1 year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Asfendiyarov Kazakh National Medical University

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 1, 2022

Primary Completion (Actual)

January 20, 2023

Study Completion (Actual)

January 20, 2023

Study Registration Dates

First Submitted

September 25, 2021

First Submitted That Met QC Criteria

October 21, 2021

First Posted (Actual)

October 22, 2021

Study Record Updates

Last Update Posted (Actual)

March 14, 2023

Last Update Submitted That Met QC Criteria

March 13, 2023

Last Verified

March 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 1199

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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