Child-Parent Familial Hypercholesterolemia Screening

Recruiting

• Conditions: Familial Hypercholesterolemia

• Registration Number: NCT04529967
• Lead Sponsor: Children's Hospital of Fudan University

Brief Summary

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:

1. The 95th and 99th percentile of finger blood TC in children of 2 years old.

2. Mutations that contribute to high TC status ( serum TC \>99th percentiles) compared with international FH48 panel for FH genetic screening.

Detailed Description

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.

Study Timeline

• Study First Submitted: 2020-08-25
• Study First Submitted QC: 2020-08-25
• Study First Posted: 2020-08-28
• Study Start: 2025-04-01
• Status Verified: 2025-05
• Last Update Submitted: 2025-05-05
• Last Update Posted: 2025-05-07
• Primary Completion: 2026-09-30
• Study Completion: 2026-09-30

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 15000

Inclusion Criteria

• Receive routine child care
• aged 1 - 3 years old ( date of investigate minus date of birth)

Exclusion Criteria

• It is up to the researcher to decide whether it is suitable to participate in this research

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
The affected status of Familial Hypercholesterolemia	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

Secondary Outcome Measures

Name	Time	Method
fasting total cholesterol level by Fingertip capillary blood test in children around 2 years old	At enrollment
fasting serum LDL-c levels of children with finger TC over P95	At enrollment
affected status of known FH mutation	At enrollment	according to FH48

Trial Locations

Locations (6)

Anhui Provincial Children's Hospital; 🇨🇳 Hefei, Anhui, China

Qidong Women and Children Hospital; 🇨🇳 Qidong, Jiangsu, China

Shanxi Provincial Children's Hospital; 🇨🇳 Taiyuan, Shan XI, China

Weili Yan; 🇨🇳 Shanghai, Shanghai, China

Chongqin Medical University Affiliated Children's Hospital; 🇨🇳 Chongqing, Sichuan, China

Urumqi Children's Hospital; 🇨🇳 Ürümqi, Xinjiang, China