National Network for Cardiovascular Genomics: Advancing Cardiovascular Healthcare for Hereditary Diseases in Brazil's Unified Health System Through a Multicenter Registry
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 1,211
- 试验地点
- 38
- 主要终点
- Diagnostic yield
研究概览
简要总结
The goal of this observational study is to develop a registry of Brazilian patients with hereditary cardiovascular diseases, combining clinical and genomic data. The main questions it aims to answer are:
Which genes are most commonly affected? What is the frequency of these genetic alterations in our population? Participants will be interviewed in routine medical care visits and their DNA will be sequenced.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Clinical diagnosis of a hereditary cardiovascular disease according to current clinical guidelines
- •Agree to receive genetic counseling
- •Sign informed consent form
- •Provide the information required in the case report form
排除标准
- •Signature absent from informed consent form
- •Inadequate buccal swab (sample may be collected twice)
结局指标
主要结局
Diagnostic yield
时间窗: 30 months after study start date
Percentage of participants with pathogenic or likely pathogenic variants
Variant frequency
时间窗: 30 months after study start date
Determine the frequency of disease-causing and benign variants in the Brazilian population
Genetic diversity
时间窗: 30 months after study start date
Determine genes that cause hereditary cardiovascular diseases in Brazil
次要结局
未报告次要终点