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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:
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.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| no interventions | Other | it is a observational study, do not have interventions. |
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| fasting total cholesterol level by Fingertip capillary blood test in children around 2 years old | At enrollment | |
| affected status of known FH mutation | according to FH48 | At enrollment |
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Inclusion Criteria:
Exclusion Criteria:
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All community-children from slelected communities aged 1 to 3 who receive regular child care (programmed immunization vaccination clinic) within a prespecified study period
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Weili Yan | Contact | +86 21 64931215 | yanwl@fudan.edu.cn | |
| Fang Liu, MD | Contact | liufang@fudan.edu.cn |
| Name | Affiliation | Role |
|---|---|---|
| LIling Qian, Master | Children's Hospital of Fudan University | Study Director |
| Rui Dong, MD | Children's Hospital of Fudan University | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Anhui Provincial Children's Hospital | Recruiting | Hefei | Anhui | China |
The data generated and/or during current study are not publicly available due to incomplete study, but are available from the corresponding author on reasonable request.
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| ID | Term |
|---|---|
| D006938 | Hyperlipoproteinemia Type II |
| ID | Term |
|---|---|
| D008052 | Lipid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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capillary blood
| fasting serum LDL-c levels of children with finger TC over P95 | At enrollment |
| Qidong Women and Children Hospital | Recruiting | Qidong | Jiangsu | China |
|
| Weili Yan | Recruiting | Shanghai | Shanghai Municipality | 201102 | China |
|
| Shanxi Provincial Children's Hospital | Recruiting | Taiyuan | Shanxi | China |
|
| Chongqin Medical University Affiliated Children's Hospital | Recruiting | Chongqing | Sichuan | China |
|
| Urumqi Children's Hospital | Recruiting | Ürümqi | Xinjiang | 830000 | China |
|
| D006951 | Hyperlipoproteinemias |
| D006949 | Hyperlipidemias |
| D050171 | Dyslipidemias |
| D052439 | Lipid Metabolism Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |