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

Completed

• Conditions: Epilepsy

• Registration Number: NCT06674070
• Lead Sponsor: Riphah International University

Brief Summary

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.

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 Timeline

• Study Start: 2023-12-01
• Primary Completion: 2024-07-31
• Study Completion: 2024-08-31
• Study First Submitted: 2024-09-03
• Status Verified: 2024-11
• Study First Submitted QC: 2024-11-03
• Last Update Submitted: 2024-11-03
• Study First Posted: 2024-11-05
• Last Update Posted: 2024-11-05

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 200

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).

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Exclusion Criteria

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

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
To evaluate the genetic variabilities in the clinical efficacy of Valproic acid after prescription for epilepsy	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.

Trial Locations

Locations (1)

IIMC, Riphah International University; 🇵🇰 Islamabad, Federal, Pakistan