Child-Parent Familial Hypercholesterolemia Screening

Familial Hypercholesterolemia Clinical Trial

Official title:

Child-Parent Screening of Familial Hypercholesterolemia in Children

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT04529967
• Other study ID #: CHFD-2020007
• Status: Not yet recruiting
• Start date: April 1, 2024
• Est. completion date: September 30, 2025

Study information

• Verified date: February 2024
• Source: Children's Hospital of Fudan University
• Contact: Weili Yan
• Phone: +86 21 64931215
• Email: yanwl[@]fudan.edu.cn
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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 scitific 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 genetc screening.

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. Apillary 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.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 15000
• Est. completion date: September 30, 2025
• Est. primary completion date: September 30, 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: 1 Year to 3 Years

Eligibility

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

Related Conditions & MeSH terms

• Familial Hypercholesterolemia
• Hypercholesterolemia
• Hyperlipoproteinemia Type II

Intervention

Other:
• no interventions
it is a observational study, do not have interventions.

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Children's Hospital of Fudan University

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	The affected status of Familial Hypercholesterolemia	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	At enrollment
Secondary	fasting total cholesteral level by Fingertip capillary blood test in children around 2 years old		At enrollment
Secondary	affected status of known FH mutation	according to FH48	At enrollment
Secondary	fasting serum LDL-c levels of children with finger TC over P95		At enrollment