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

NCT ID: NCT06674070

Last Updated: 2024-11-05

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

200 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-12-01

Study Completion Date

2024-08-31

Brief Summary

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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

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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.

Conditions

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Epilepsy

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Interventions

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Valproic Acid

syrup/ tablet EPIVAL (250mg

Intervention Type GENETIC

Eligibility Criteria

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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
Minimum Eligible Age

1 Month

Maximum Eligible Age

12 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Riphah International University

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Sughra Kanwal, MBBS

Role: PRINCIPAL_INVESTIGATOR

Riphah International University

Locations

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IIMC, Riphah International University

Islamabad, Federal, Pakistan

Site Status

Countries

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Pakistan

References

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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.

Reference Type BACKGROUND
PMID: 19142297 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 29724294 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 30693367 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 15540518 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 34133540 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 19694741 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 33519675 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 29263209 (View on PubMed)

Other Identifiers

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Riphah/IIMC/IRC/23/30101

Identifier Type: -

Identifier Source: org_study_id

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