Familial HypercholesterolemiaNCT04529967
Child-Parent Familial Hypercholesterolemia Screening
An observational study of Familial Hypercholesterolemia, run by Children's Hospital of Fudan University at 6 sites in China.
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. Read more about this study
- Who is it for?
- Ages 1 year to 3 years
- Conditions the study is for
- Familial Hypercholesterolemia
- How many people
- 15,000 participants
- Where
- 6 sitesChina
- Study dates
- 1 Apr 2025to 30 Sep 2026
- How long will I take part?
- 1 Year
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year to 3 years
- All sexes
- No healthy volunteers
- Child
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
Who may be able to join
- Receive routine child care
- aged 1 - 3 years old ( date of investigate minus date of birth)
Who cannot join
- It is up to the researcher to decide whether it is suitable to participate in this research
Trial locations and contacts
6 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Fang Liu, MD contact
6 sites in 1 country
China6 sites, 6 recruiting
- Recruiting
Chongqin Medical University Affiliated Children's Hospital
Chongqing, Sichuan
Xiaohua Liang
- Recruiting
Anhui Provincial Children's Hospital
Hefei, Anhui
Haipeng Liu
- Recruiting
Qidong Women and Children Hospital
Qidong, Jiangsu
Jun Shen
- Recruiting
Weili Yan
Shanghai, Shanghai Municipality, 201102
YI Zhang, PhD
- Recruiting
Shanxi Provincial Children's Hospital
Taiyuan, Shanxi
Lixia Bai
- Recruiting
Urumqi Children's Hospital
Ürümqi, Xinjiang, 830000
Wenping Cai
About this study
Official title: Child-Parent Screening of Familial Hypercholesterolemia in Children
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:
- The 95th and 99th percentile of finger blood TC in children of 2 years old.
- Mutations that contribute to high TC status ( serum TC >99th percentiles) compared with international FH48 panel for FH genetic screening.
Read the 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
- Being tested
- no interventions
- Medical subject headings
- Hyperlipoproteinemia Type II
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
no interventionsOther
it is a observational study, do not have interventions.
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: At enrollment
Secondary outcomes (3)
fasting total cholesterol level by Fingertip capillary blood test in children around 2 years old
Measured: At enrollment
affected status of known FH mutation
according to FH48
Measured: At enrollment
fasting serum LDL-c levels of children with finger TC over P95
Measured: At enrollment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Aug 2020
- Study start1 Apr 2025
- Primary completion30 Sep 2026 (estimated)
- Study completion30 Sep 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Familial HypercholesterolemiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Cross-sectional
- Enrolment
- 15,000 participants (estimated)
- Target duration
- 1 Year
Sponsor and investigators
- Lead sponsor
- Children's Hospital of Fudan University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- LIling Qian, Master, Study director, Children's Hospital of Fudan UniversityRui Dong, MD, Study director, Children's Hospital of Fudan University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04529967
- Sponsor's protocol ID
- CHFD-2020007
- Status last verified
- May 2026
- First submitted
- 25 Aug 2020
- Last updated
- 15 May 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: 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.
Study at a glance
From the registry record, last updated by the sponsor on 15 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Child-Parent Screening of Familial Hypercholesterolemia in Children
- ClinicalTrials.gov ID
- NCT04529967
- Acronym / sponsor ID
- CHFD-2020007
- Conditions
- Familial Hypercholesterolemia
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 15,000 participants (estimated)
- Lead sponsor
- Children's Hospital of Fudan UniversityUniversity, hospital or other
- Study start
- 1 Apr 2025 (actual)
- Primary completion
- 30 Sep 2026 (estimated)
- Study completion
- 30 Sep 2026 (estimated)
- First posted
- 28 Aug 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- The 95th and 99th percentile of finger blood TC in children of 2 years old.
- 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.
Study design
- Observational model
- Family based
- Time perspective
- Cross-sectional
- Target follow-up
- 1 Year
Who may qualify
- Ages
- 1 year to 3 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- 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
Key inclusion criteria (2 listed)
- Receive routine child care
- aged 1 - 3 years old ( date of investigate minus date of birth)
Key exclusion criteria (1 listed)
- It is up to the researcher to decide whether it is suitable to participate in this research
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| no interventionsit is a observational study, do not have interventions. | Other | – |
Primary outcome
The affected status of Familial Hypercholesterolemia
Time frame: At enrollment
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
3 secondary outcomes
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 May 2026.
- Individual participant dataSharing planned: Undecided. 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.
Related trials for Familial Hypercholesterolemia
RecruitingPhase 3
Study of Zodasiran in Adolescent Participants With Homozygous Familial Hypercholesterolemia
Homozygous Familial Hypercholesterolemia
Not yet recruitingPhase 1/2
EDIT-401 in Adults Who Require Additional Lowering of Low-Density Lipoprotein Cholesterol (LDL-C)
Heterozygous Familial Hypercholesterolemia (HeFH)
RecruitingPhase 1
Phase 1b Study of VERVE-201 in Patients With Refractory Hyperlipidemia
Hypercholesterolemia, Hypertriglyceridemia
Active, not recruiting
Clinical Decision Support for Familial Hypercholesterolemia
Hypercholesterolemia, Familial, Clinical Decision Support
Recruiting
The ORIGIN-FH Study
Heterozygous Familial Hypercholesterolemia (HeFH), Homozygous Familial Hypercholesterolemia (HoFH)
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Fang Liu, MD contact
LIling Qian, Master study director
Children's Hospital of Fudan University
Rui Dong, MD study director
Children's Hospital of Fudan University
6 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Familial Hypercholesterolemia, run by Children's Hospital of Fudan University at 6 sites in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 15 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 6 sites in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Weili Yan (+86 21 64931215, yanwl@fudan.edu.cn), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
The affected status of Familial Hypercholesterolemia (time frame: At enrollment). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 May 2026.