Child-Parent Familial Hypercholesterolemia Screening
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: no interventions.
- Who it may be relevant to
- Registry conditions: Familial Hypercholesterolemia. Basic parameters: 1 year — 3 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- China
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Child-Parent Screening of Familial Hypercholesterolemia in Children
Overview
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.
Interventions
- Other no interventions
it is a observational study, do not have interventions.
Primary outcome measures
- The affected status of Familial Hypercholesterolemia [Time frame: At enrollment]
Secondary outcome measures (3)
- fasting total cholesterol level by Fingertip capillary blood test in children around 2 years old [Time frame: At enrollment]
- affected status of known FH mutation [Time frame: At enrollment]
- fasting serum LDL-c levels of children with finger TC over P95 [Time frame: At enrollment]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Family-based
Study locations
China · 6 centers
- Anhui Provincial Children's Hospital — Hefei
- Qidong Women and Children Hospital — Qidong
- Weili Yan — Shanghai
- Shanxi Provincial Children's Hospital — Taiyuan
- Chongqin Medical University Affiliated Children's Hospital — Chongqing
- Urumqi Children's Hospital — Ürümqi
Identifiers
NCT: NCT04529967 · CHFD-2020007