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

NCT06674070 | Completed

• 1 other identifier: Riphah/IIMC/IRC/23/30101
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

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.

Conditions

Epilepsy

Outcome Measures

Primary Outcomes (1)

• To evaluate the genetic variabilities in the clinical efficacy of Valproic acid after prescription for epilepsy

  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

Interventions

Valproic Acid GENETIC

syrup/ tablet EPIVAL (250mg

Eligibility Criteria

• Age: 1 Month - 12 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Pediatric Pakistani population

You may qualify if:

• 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).

You may not qualify if:

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

Sponsors & Collaborators

• Riphah International University: lead

Study Sites (1)

IIMC, Riphah International University

Islamabad, Federal, Pakistan

Location

Related Publications (8)

• Wang W, Wu J, Dai X, Ma G, Yang B, Wang T, Yuan C, Ding D, Hong Z, Kwan P, Bell GS, Prilipko LL, de Boer HM, Sander JW. Global campaign against epilepsy: assessment of a demonstration project in rural China. Bull World Health Organ. 2008 Dec;86(12):964-9. doi: 10.2471/blt.07.047050.

  PMID: 19142297 BACKGROUND

• Chen J, Su QB, Tao YQ, Qin JM, Zhou Y, Zhou S, Li HL, Chen ZJ, Zhou YF, Zhou LM, Wang XD, Huang M. ABCC2 rs2273697 is associated with valproic acid concentrations in patients with epilepsy on valproic acid monotherapy. Pharmazie. 2018 May 1;73(5):279-282. doi: 10.1691/ph.2018.7344.

  PMID: 29724294 BACKGROUND

• Shi L, Zhu M, Li H, Wen Z, Chen X, Luo J, Lin C, Zhang Z. SCN1A and SCN2A polymorphisms are associated with response to valproic acid in Chinese epilepsy patients. Eur J Clin Pharmacol. 2019 May;75(5):655-663. doi: 10.1007/s00228-019-02633-0. Epub 2019 Jan 28.

  PMID: 30693367 BACKGROUND

• Rabbani MA, Siddiqui BK, Tahir MH, Ahmad B, Shamim A, Shah SM, Ahmad A. Systemic lupus erythematosus in Pakistan. Lupus. 2004;13(10):820-5. doi: 10.1191/0961203303lu1077xx.

  PMID: 15540518 BACKGROUND

• Banawalikar N, Adiga S, Adiga U, Shenoy V, Kumari S, Shetty P, Shetty S, Sharmila KP. Association of UGT1A6 gene polymorphism with clinical outcome in pediatric epileptic patients on sodium valproate monotherapy. Braz J Med Biol Res. 2021 Jun 14;54(9):e11097. doi: 10.1590/1414-431X2021e11097. eCollection 2021.

  PMID: 34133540 BACKGROUND

• Lakhan R, Kumari R, Misra UK, Kalita J, Pradhan S, Mittal B. Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population. Br J Clin Pharmacol. 2009 Aug;68(2):214-20. doi: 10.1111/j.1365-2125.2009.03437.x.

  PMID: 19694741 BACKGROUND

• Li M, Zhong R, Lu Y, Zhao Q, Li G, Lin W. Association Between SCN1A rs2298771, SCN1A rs10188577, SCN2A rs17183814, and SCN2A rs2304016 Polymorphisms and Responsiveness to Antiepileptic Drugs: A Meta-Analysis. Front Neurol. 2021 Jan 14;11:591828. doi: 10.3389/fneur.2020.591828. eCollection 2020.

  PMID: 33519675 BACKGROUND

• Oyrer J, Maljevic S, Scheffer IE, Berkovic SF, Petrou S, Reid CA. Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies. Pharmacol Rev. 2018 Jan;70(1):142-173. doi: 10.1124/pr.117.014456.

  PMID: 29263209 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Venous blood was withdrawn, and DNA extraction was performed using Chelex method

MeSH Terms

Conditions

Epilepsy

Interventions

Valproic Acid

Condition Hierarchy (Ancestors)

Brain Diseases; Central Nervous System Diseases; Nervous System Diseases

Intervention Hierarchy (Ancestors)

Pentanoic Acids; Valerates; Acids, Acyclic; Carboxylic Acids; Organic Chemicals; Fatty Acids, Volatile; Fatty Acids; Lipids

Study Officials

• Sughra Kanwal, MBBS

  Riphah International University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 3, 2024
• First Posted: November 5, 2024
• Study Start: December 1, 2023
• Primary Completion: July 31, 2024
• Study Completion: August 31, 2024
• Last Updated: November 5, 2024

Record last verified: 2024-11

Data Sharing

• IPD Sharing: Will not share

Locations

PA (1)