SCN2A Polymorphisms Are Associated With Response to Valproic Acid in Paediatric Population(Pakistan)

November 3, 2024 updated by: Riphah International University

SCN2A, rs2304016 Polymorphisms Are Associated With Response to Valproic Acid in Paediatric Epilepsy Patients (Pakistan)

The goal of this Observational study was to identify the effect of SCN2A gene polymorphism in the Paediatric epileptic Pakistani population. The main question it aims to answer is:

to evaluate the effect of this genetic polymorphism on the clinical efficacy of Valproic acid

Participants were prescribed Valproic acid after diagnosis of epilepsy.

Study Overview

Status

Completed

Conditions

Epilepsy

Intervention / Treatment

Genetic: Valproic Acid

Detailed Description

This observational study aimed to identify the effect of SCN2A rs2304016 gene polymorphism in the Paediatric epileptic population.

The main question it aims to answer is:

• to evaluate the effect of this genetic polymorphism on the clinical efficacy of Valproic acid

The participants' blood samples were taken and further genotyping was performed using conventional tetraARMS PCR. The results were visualized by gel electrophoresis.

Study Type

Observational

Enrollment (Actual)

200

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

Pakistan
- Federal
  - Islamabad, Federal, Pakistan
    - IIMC, Riphah International University

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

Child

Accepts Healthy Volunteers

Sampling Method

Non-Probability Sample

Study Population

Pediatric Pakistani population

Description

Inclusion Criteria:

Epileptic Pakistani individuals of age between 1 to 12 years of either sex
Each patient had experienced two or more clinically confirmed, spontaneous epileptic seizures in the past.
Newly diagnosed patients started VPA 20 mg/kg (drug of the same brand was used for every patient throughout the study).

Exclusion Criteria:

Patients taking any other anti-epileptic drug.
Patients taking medications that interact with VPA.
Patients with moderate or severe systemic diseases

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
To evaluate the genetic variabilities in the clinical efficacy of Valproic acid after prescription for epilepsy Time Frame: 2 Months	The questionnaire used is QOLIE-31 (Quality of Life in Epilepsy Inventory). This is a widely used instrument developed especially for evaluating QOL (quality of life) in patients with epilepsy. QOLIE-31 consists of 31 questions divided into seven domains: emotional well-being, social functioning, energy/fatigue, and cognitive functioning. Seizure worry, medication effects, and overall QOL all scored from zero to 1. The higher the score, the better the response to treatment. Each domain was scored by calculating the mean score of the responses to the questions within that domain. Higher scores reflect better QOL while lower ones reflect worse QOL.	2 Months

Collaborators and Investigators

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

Sponsor

Riphah International University

Investigators

Principal Investigator: Sughra Kanwal, MBBS, Riphah International University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

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)

December 1, 2023

Primary Completion (Actual)

July 31, 2024

Study Completion (Actual)

August 31, 2024

Study Registration Dates

First Submitted

September 3, 2024

First Submitted That Met QC Criteria

November 3, 2024

First Posted (Estimated)

November 5, 2024

Study Record Updates

Last Update Posted (Estimated)