Ignite Creation Date:
2025-12-25 @ 12:35 AM
Ignite Modification Date:
2025-12-25 @ 10:43 PM
Study NCT ID:
NCT04529967
Status:
RECRUITING
Last Update Posted:
2025-05-07
First Post:
2020-08-25
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Child-Parent Familial Hypercholesterolemia Screening
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D006938', 'term': 'Hyperlipoproteinemia Type II'}], 'ancestors': [{'id': 'D008052', 'term': 'Lipid Metabolism, Inborn Errors'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D006951', 'term': 'Hyperlipoproteinemias'}, {'id': 'D006949', 'term': 'Hyperlipidemias'}, {'id': 'D050171', 'term': 'Dyslipidemias'}, {'id': 'D052439', 'term': 'Lipid Metabolism Disorders'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'capillary blood'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'FAMILY_BASED'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 15000}, 'targetDuration': '1 Year', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2025-04-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-05', 'completionDateStruct': {'date': '2026-09-30', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-05-05', 'studyFirstSubmitDate': '2020-08-25', 'studyFirstSubmitQcDate': '2020-08-25', 'lastUpdatePostDateStruct': {'date': '2025-05-07', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2020-08-28', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2026-09-30', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'The affected status of Familial Hypercholesterolemia', 'timeFrame': 'At enrollment', 'description': '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'}], 'secondaryOutcomes': [{'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', 'description': 'according to FH48'}, {'measure': 'fasting serum LDL-c levels of children with finger TC over P95', 'timeFrame': 'At enrollment'}]}, 'oversightModule': {'oversightHasDmc': True, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Familial Hypercholesterolemia']}, 'descriptionModule': {'briefSummary': '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.\n\nkey scientific questions:\n\n1. The 95th and 99th percentile of finger blood TC in children of 2 years old.\n2. Mutations that contribute to high TC status ( serum TC \\>99th percentiles) compared with international FH48 panel for FH genetic screening.', 'detailedDescription': "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.\n\nChild-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."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD'], 'maximumAge': '3 Years', 'minimumAge': '1 Year', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'All community-children from slelected communities aged 1 to 3 who receive regular child care (programmed immunization vaccination clinic) within a prespecified study period', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Receive routine child care\n* aged 1 - 3 years old ( date of investigate minus date of birth)\n\nExclusion Criteria:\n\n* It is up to the researcher to decide whether it is suitable to participate in this research'}, 'identificationModule': {'nctId': 'NCT04529967', 'briefTitle': 'Child-Parent Familial Hypercholesterolemia Screening', 'organization': {'class': 'OTHER', 'fullName': "Children's Hospital of Fudan University"}, 'officialTitle': 'Child-Parent Screening of Familial Hypercholesterolemia in Children', 'orgStudyIdInfo': {'id': 'CHFD-2020007'}}, 'armsInterventionsModule': {'interventions': [{'name': 'no interventions', 'type': 'OTHER', 'description': 'it is a observational study, do not have interventions.'}]}, 'contactsLocationsModule': {'locations': [{'city': 'Hefei', 'state': 'Anhui', 'status': 'RECRUITING', 'country': 'China', 'contacts': [{'name': 'Haipeng Liu', 'role': 'CONTACT'}], 'facility': "Anhui Provincial Children's Hospital", 'geoPoint': {'lat': 31.86389, 'lon': 117.28083}}, {'city': 'Qidong', 'state': 'Jiangsu', 'status': 'RECRUITING', 'country': 'China', 'contacts': [{'name': 'Jun Shen', 'role': 'CONTACT'}], 'facility': 'Qidong Women and Children Hospital', 'geoPoint': {'lat': 33.41667, 'lon': 119.21667}}, {'zip': '201102', 'city': 'Shanghai', 'state': 'Shanghai Municipality', 'status': 'RECRUITING', 'country': 'China', 'contacts': [{'name': 'YI Zhang, PhD', 'role': 'CONTACT'}], 'facility': 'Weili Yan', 'geoPoint': {'lat': 31.22222, 'lon': 121.45806}}, {'city': 'Taiyuan', 'state': 'Shanxi', 'status': 'RECRUITING', 'country': 'China', 'contacts': [{'name': 'Lixia Bai', 'role': 'CONTACT'}], 'facility': "Shanxi Provincial Children's Hospital", 'geoPoint': {'lat': 37.86944, 'lon': 112.56028}}, {'city': 'Chongqing', 'state': 'Sichuan', 'status': 'RECRUITING', 'country': 'China', 'contacts': [{'name': 'Xiaohua Liang', 'role': 'CONTACT'}], 'facility': "Chongqin Medical University Affiliated Children's Hospital"}, {'zip': '830000', 'city': 'Ürümqi', 'state': 'Xinjiang', 'status': 'RECRUITING', 'country': 'China', 'contacts': [{'name': 'Wenping Cai', 'role': 'CONTACT'}], 'facility': "Urumqi Children's Hospital", 'geoPoint': {'lat': 43.80096, 'lon': 87.60046}}], 'centralContacts': [{'name': 'Weili Yan', 'role': 'CONTACT', 'email': 'yanwl@fudan.edu.cn', 'phone': '+86 21 64931215'}, {'name': 'Fang Liu, MD', 'role': 'CONTACT', 'email': 'liufang@fudan.edu.cn'}], 'overallOfficials': [{'name': 'LIling Qian, Master', 'role': 'STUDY_DIRECTOR', 'affiliation': "Children's Hospital of Fudan University"}, {'name': 'Rui Dong, MD', 'role': 'STUDY_DIRECTOR', 'affiliation': "Children's Hospital of Fudan University"}]}, 'ipdSharingStatementModule': {'ipdSharing': 'UNDECIDED', 'description': '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.'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': "Children's Hospital of Fudan University", 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}