Clinical trial NCT06674070: SCN2A Polymorphisms Are Associated With Response to Valproic Acid in Paediatric Population(Pakistan)
Official title: SCN2A, rs2304016 Polymorphisms Are Associated With Response to Valproic Acid in Paediatric Epilepsy Patients (Pakistan)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Epilepsy
Lead sponsor: Riphah International University
Sponsor class: OTHER
First posted: 2024-11-05
Enrollment: 200
Sex: ALL
Minimum age (years): 1
Maximum age (years): 12
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Pediatric Pakistani population

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.

Eligibility criteria: 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

Primary outcomes:
measure: To evaluate the genetic variabilities in the clinical efficacy of Valproic acid after prescription for epilepsy
timeFrame: 2 Months
Secondary outcomes:
Other outcomes:
Locations:
city: Islamabad
country: Pakistan
facility: IIMC, Riphah International University
state: Federal
Study officials:
affiliation: Riphah International University
name: Sughra Kanwal, MBBS
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
citation: 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.
citation: 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.
citation: 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.
citation: 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.
citation: 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.
citation: 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.
citation: 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.