Child-Parent Screening of Familial Hypercholesterolemia in Children
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 15,000
- 试验地点
- 6
- 主要终点
- The affected status of Familial Hypercholesterolemia
研究概览
简要总结
Child-parent screening for familial hypercholesterolemia has been proposed to identify children and their parent who are carrier of mutations and with high risk for inherited premature coronary artery disease. The investigators assessed the efficacy and feasibility of such screening in primary care practice.
key scientific questions:
- The 95th and 99th percentile of finger blood TC in children of 2 years old.
- Mutations that contribute to high TC status ( serum TC >99th percentiles) compared with international FH48 panel for FH genetic screening.
详细描述
Familial hypercholesterolemia (FH) is an inherited condition resulting in high levels of low-density lipoprotein cholesterol (LDL-C) and increased risk of premature coronary artery disease in men and women. Child-parent screening for familial hypercholesterolemia has been proposed to identify persons who are carriers of FH mutations and with high risk for inherited premature coronary artery disease. The investigators will conduct a cross-sectional community-based screening in children of 2 years old to detect FH children cases using finger blood TC test first and followed by serum TC test and mutation test, and to identify and diagnose their affected parents. This study aims to established the child-parent screening program and technique issues for early diagnosis of familial hypercholesterolemia families for future early intervention.
Child-parent screening strategy in our study consists three steps: i. Capillary blood total cholesterol test of children aged around 2 years; ii. re-test for children with cholesterol>95th percentile in the first step; iii. WES (whole exome sequencing) test for >P99 in the first two steps. iV: TC test and mutation test to the parents of the child FH cases. The investigators will determine FH families based on the program. Children's Hospital of Fudan University will provide treatment further.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 1 Year 至 3 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Receive routine child care
- •aged 1 - 3 years old ( date of investigate minus date of birth)
排除标准
- •It is up to the researcher to decide whether it is suitable to participate in this research
结局指标
主要结局
The affected status of Familial Hypercholesterolemia
时间窗: At enrollment
heterozygote or homozygote carriers of established FH mutations in LDLR, PSCK9 and APOB gene, including mutations included in the FH48 and new ones identified in Chinese children
次要结局
- fasting total cholesterol level by Fingertip capillary blood test in children around 2 years old(At enrollment)
- affected status of known FH mutation(At enrollment)
- fasting serum LDL-c levels of children with finger TC over P95(At enrollment)