SCN2A, rs2304016 Polymorphisms Are Associated With Response to Valproic Acid in Paediatric Epilepsy Patients (Pakistan)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 200
- 试验地点
- 1
- 主要终点
- To evaluate the genetic variabilities in the clinical efficacy of Valproic acid after prescription for epilepsy
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 1 Month 至 12 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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).
排除标准
- •Patients taking any other anti-epileptic drug.
- •Patients taking medications that interact with VPA.
- •Patients with moderate or severe systemic diseases
结局指标
主要结局
To evaluate the genetic variabilities in the clinical efficacy of Valproic acid after prescription for epilepsy
时间窗: 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.
次要结局
未报告次要终点