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Completed

NCT Number: NCT06674070

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

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Key information

Conditions

Epilepsy Brain Diseases Central Nervous System Diseases Nervous System Diseases

Age range

1 month–12 year

Sex eligibility

All sexes

Study type

Observational

Primary location

IIMC, Riphah International University

Islamabad, Federal, Pakistan

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Valproic Acid

Genetic

syrup/ tablet EPIVAL (250mg

Primary outcomes

  1. 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.

Sponsors and collaborators

Lead sponsor

Riphah International University

Other

Registry information

Official study title

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

Important dates

Study start
2023
Primary completion
2024
Study completion
2024
First posted
Nov 5, 2024
Registry last updated
Nov 5, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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