Discovering the Genetic Causes of Brugada Syndrome in Thais and Southeast Asian Population
试验速览
- 阶段
- 不适用
- 入组人数
- 750
- 试验地点
- 11
- 主要终点
- Relationship between genetic variants and Brugada syndrome (Brugada syndrome phenotype)
研究概览
简要总结
Brugada syndrome (BrS) is the leading cause of sudden death in young Asian adults including Thailand. This syndrome may be hereditary and involve mutations in certain genes. Aim of the study is to identify the relationship between genetic variants and the diagnosis/clinical severity of patients with BrS.
详细描述
This cohort study recruits BrS patients with confirmed Brugada type 1 ECG and healthy volunteers in Thailand. Data collection consists of demographic, clinical data, ECG and blood sample for genetic studies. Genotyping was done by whole genome sequencing and SNP array then compared between cases and controls. Each BrS patient will be followed up prospectively for symptoms and AICD shock. Subsequently, the study will analyze relationship between genetic variants and clinical data against clinical severity of BrS patients.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Thai nationality
- •The patient has at least one of confirmed Brugada type 1 ECG in at least one of right precordial leads (v1 or v2) with or without pharmacologic provocative testing. The confirmed ECG is standard 12 lead ECG or Brugada lead
排除标准
- •The patient has other cardiac diseases such as ischemic heart disease, valvular heart disease, congenital heart disease, myocarditis and pericarditis
- •The patient has type 2 or type 3 Brugada ECG without type 1 ECG during pharmacologic provocative testing and/or Brugada lead
- •The patient had one time of Brugada type 1 ECG during drug use without reproducibility
结局指标
主要结局
Relationship between genetic variants and Brugada syndrome (Brugada syndrome phenotype)
时间窗: 7 years
Case-Control study of genetic variants in BrS cases vs controls. Genetic study was done by whole genome sequencing and SNP array. Association analysis assessed by polygenic risk score and regression coefficients.
次要结局
- Natural history of Brugada syndrome (survival from arrhythmic events)(7 years)
- Epidemiology of Brugada syndrome(7 years)
研究者
Apichai Khongphatthanayothin, MD
Professor of Pediatrics, Division of Pediatric Cardiology, Department of Pediatrics, Faculty of Medicine
Chulalongkorn University