Clinical trial NCT04529967: Child-Parent Familial Hypercholesterolemia Screening
Official title: Child-Parent Screening of Familial Hypercholesterolemia in Children
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Familial Hypercholesterolemia
Lead sponsor: Children's Hospital of Fudan University
Sponsor class: OTHER
First posted: 2020-08-28
Enrollment: 15000
Sex: ALL
Minimum age (years): 1
Maximum age (years): 3
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: FAMILY_BASED
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: All community-children from slelected communities aged 1 to 3 who receive regular child care (programmed immunization vaccination clinic) within a prespecified study period

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.

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

Primary outcomes:
measure: The affected status of Familial Hypercholesterolemia
timeFrame: At enrollment
Secondary outcomes:
measure: fasting total cholesterol level by Fingertip capillary blood test in children around 2 years old
timeFrame: At enrollment
measure: affected status of known FH mutation
timeFrame: At enrollment
measure: fasting serum LDL-c levels of children with finger TC over P95
timeFrame: At enrollment
Other outcomes:
Locations:
city: Hefei
country: China
facility: Anhui Provincial Children's Hospital
state: Anhui
city: Qidong
country: China
facility: Qidong Women and Children Hospital
state: Jiangsu
city: Taiyuan
country: China
facility: Shanxi Provincial Children's Hospital
state: Shan XI
city: Shanghai
country: China
facility: Weili Yan
state: Shanghai
city: Chongqing
country: China
facility: Chongqin Medical University Affiliated Children's Hospital
state: Sichuan
city: Ürümqi
country: China
facility: Urumqi Children's Hospital
state: Xinjiang
Study officials:
affiliation: Children's Hospital of Fudan University
name: LIling Qian, Master
role: STUDY_DIRECTOR
affiliation: Children's Hospital of Fudan University
name: Rui Dong, MD
role: STUDY_DIRECTOR
References: