Genetiska Orsaker Till familjär Hyperkolesterolemi- Mekanism, Prognos Och Individanpassad Behandling
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 发起方
- 入组人数
- 150
- 试验地点
- 1
- 主要终点
- Prevalence of mutations.
研究概览
简要总结
Familial hypercholesterolemia (FH) is a common disease. The genetic background to FH is not yet fully understood. In the present prospective cohort study we aim to study the association between different clinical characteristics, gene mutations and prognosis.
详细描述
In this prospective observational cohort study of patients with high clinical suspicion of familial hypercholesterolemia (FH) we aim to study the association between different clinical characteristics, gene mutations and prognosis.
The included patients will undergo physical examination and extended blood sampling. DNA will be extracted and used for both whole genome sequencing and investigation of both known- , unknown- and suspected mutations associated with FH.
The patients will be followed in for 15 years in the Swedish patients registry and the Swedish cause of death registry.
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
- 8 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age 8 years or older.
- •Clinical suspicion of FH
- •Dutch Lipid Clinic Network Score of at least four or a first grade relative with a genetic deviation that may be associated with FH.
排除标准
- •Age below 8 years.
结局指标
主要结局
Prevalence of mutations.
时间窗: 2 years
The prevalence of known and newly discovered mutations associated with FH in the study population.
次要结局
- Prognosis, composite endpoint.(10 years)
- Prognosis, individual endpoint.(10 years)