Child-Parent Familial Hypercholesterolemia Screening

NCT ID: NCT04529967

Last Updated: 2025-05-07

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 15000 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2025-04-01
• Study Completion Date: 2026-09-30

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.

Conditions

Familial Hypercholesterolemia

Study Design

• Observational Model Type: FAMILY_BASED
• Study Time Perspective: CROSS_SECTIONAL

Interventions

no interventions

it is a observational study, do not have interventions.

Intervention Type: OTHER

Eligibility Criteria

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

• Minimum Eligible Age: 1 Year
• Maximum Eligible Age: 3 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Children's Hospital of Fudan University

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

LIling Qian, Master

Role: STUDY_DIRECTOR

Children's Hospital of Fudan University

Rui Dong, MD

Role: STUDY_DIRECTOR

Children's Hospital of Fudan University

Locations

Anhui Provincial Children's Hospital

Hefei, Anhui, China

Site Status: RECRUITING

Qidong Women and Children Hospital

Qidong, Jiangsu, China

Site Status: RECRUITING

Weili Yan

Shanghai, Shanghai Municipality, China

Site Status: RECRUITING

Shanxi Provincial Children's Hospital

Taiyuan, Shanxi, China

Site Status: RECRUITING

Chongqin Medical University Affiliated Children's Hospital

Chongqing, Sichuan, China

Site Status: RECRUITING

Urumqi Children's Hospital

Ürümqi, Xinjiang, China

Site Status: RECRUITING

Countries

China

Central Contacts

Weili Yan

Role: CONTACT

yanwl@fudan.edu.cn

+86 21 64931215

Fang Liu, MD

Role: CONTACT

liufang@fudan.edu.cn

Facility Contacts

Haipeng Liu

Role: primary

Jun Shen

Role: primary

YI Zhang, PhD

Role: primary

Lixia Bai

Role: primary

Xiaohua Liang

Role: primary

Wenping Cai

Role: primary

Other Identifiers

CHFD-2020007

Identifier Type: -

Identifier Source: org_study_id