Ignite Creation Date:
2025-12-24 @ 9:19 PM
Ignite Modification Date:
2026-03-31 @ 12:14 PM
Study NCT ID:
NCT01878604
Status:
COMPLETED
Last Update Posted:
2017-02-20
First Post:
2013-06-07
Is NOT Gene Therapy:
True
Has Adverse Events:
True
Brief Title:
Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia
Sponsor:
Organization:
Raw JSON
{'hasResults': True, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D000090542', 'term': 'Homozygous Familial Hypercholesterolemia'}], 'ancestors': [{'id': 'D006938', 'term': 'Hyperlipoproteinemia Type II'}, {'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'}]}}, 'resultsSection': {'moreInfoModule': {'pointOfContact': {'email': 'zhaosp@medmail.com.cn', 'phone': '86-731-85295806', 'title': 'Shuiping Zhao', 'organization': 'Central South University'}, 'certainAgreement': {'piSponsorEmployee': False, 'restrictiveAgreement': False}}, 'adverseEventsModule': {'description': 'Only serious adverse events were collected/assessed.', 'eventGroups': [{'id': 'EG000', 'title': 'HoFH Patients', 'description': 'all HoFH patients enrolled in this study', 'otherNumAtRisk': 0, 'deathsNumAtRisk': 5, 'otherNumAffected': 0, 'seriousNumAtRisk': 5, 'deathsNumAffected': 0, 'seriousNumAffected': 0}], 'frequencyThreshold': '0'}, 'outcomeMeasuresModule': {'outcomeMeasures': [{'type': 'PRIMARY', 'title': 'Number of LDLR Gene Mutations', 'denoms': [{'units': 'Participants', 'counts': [{'value': '5', 'groupId': 'OG000'}]}], 'groups': [{'id': 'OG000', 'title': 'HoFH Patients', 'description': 'HoFH patients'}], 'classes': [{'categories': [{'measurements': [{'value': '7', 'groupId': 'OG000'}]}]}], 'paramType': 'NUMBER', 'timeFrame': '1 year', 'description': 'Number of gene mutations based on the sequencing results in terms of some known genes and suspected novel genes.\n\nc.796 G\\>C and c.1048 C\\>T in the LDLR gene c.1448 G\\>A and c.1720C\\>A in the LDLR gene c.2030 G \\>A and c.1257 C\\>A in the LDLR gene homozygous mutation c.605 T\\>C in the LDLR gene', 'unitOfMeasure': 'gene mutations', 'reportingStatus': 'POSTED'}, {'type': 'SECONDARY', 'title': 'LDL-C Reduction Percentage', 'denoms': [{'units': 'Participants', 'counts': [{'value': '5', 'groupId': 'OG000'}]}], 'groups': [{'id': 'OG000', 'title': 'HoFH Patients', 'description': 'patients of Homozygous Familial Hypercholesterolemia that meet the Inclusion criteria:\n\n* Cutaneous xanthomata before the age of ten years\n* LDLC \\> 13 mmol/L before treatment or \\> 7.76 mmol/L despite treatment\n* Phenotypic features in keeping with HeFH in both parents'}], 'classes': [{'categories': [{'measurements': [{'value': '48.16', 'spread': '8.5981', 'groupId': 'OG000'}]}]}], 'paramType': 'MEAN', 'timeFrame': 'pre-treatment and 6-13 years post treatment', 'description': 'plasma LDL-C reduction percentage with lipid-lowering drugs from pre-treatment to the last time follow-up time point\n\nplasma LDL-C reduction percentage calculation: "plasma LDL-C at pre-treatment time point" minus "plasma LDL-C at the last time follow-up time point", and then compared with "plasma LDL-C at pre-treatment time point", namely "plasma LDL-C reduction percentage".', 'unitOfMeasure': 'percentage of plasma LDL-C reduction', 'dispersionType': 'Standard Error', 'reportingStatus': 'POSTED'}]}, 'participantFlowModule': {'groups': [{'id': 'FG000', 'title': 'Homozygous Familial Hypercholesterolemia', 'description': 'Gene Analysis for Homozygous Familial Hypercholesterolemia cases\n\nGene analysis: Gene analysis'}], 'periods': [{'title': 'Overall Study', 'milestones': [{'type': 'STARTED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '5'}]}, {'type': 'COMPLETED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '5'}]}, {'type': 'NOT COMPLETED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '0'}]}]}]}, 'baselineCharacteristicsModule': {'denoms': [{'units': 'Participants', 'counts': [{'value': '5', 'groupId': 'BG000'}]}], 'groups': [{'id': 'BG000', 'title': 'Patients of HoFH', 'description': 'patients of Homozygous Familial Hypercholesterolemia'}], 'measures': [{'title': 'Age, Continuous', 'classes': [{'categories': [{'measurements': [{'value': '5', 'spread': '1', 'groupId': 'BG000'}]}]}], 'paramType': 'MEAN', 'unitOfMeasure': 'year', 'dispersionType': 'STANDARD_DEVIATION'}, {'title': 'Sex: Female, Male', 'classes': [{'categories': [{'title': 'Female', 'measurements': [{'value': '2', 'groupId': 'BG000'}]}, {'title': 'Male', 'measurements': [{'value': '3', 'groupId': 'BG000'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'plasma LDL cholesterol concentration', 'classes': [{'categories': [{'measurements': [{'value': '17.55', 'spread': '2.34', 'groupId': 'BG000'}]}]}], 'paramType': 'MEAN', 'unitOfMeasure': 'mmol/L', 'dispersionType': 'STANDARD_DEVIATION'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Blood samples'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'RETROSPECTIVE', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 5}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2001-10'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2017-02', 'completionDateStruct': {'date': '2015-01', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2017-02-17', 'studyFirstSubmitDate': '2013-06-07', 'resultsFirstSubmitDate': '2016-10-31', 'studyFirstSubmitQcDate': '2013-06-13', 'lastUpdatePostDateStruct': {'date': '2017-02-20', 'type': 'ACTUAL'}, 'resultsFirstSubmitQcDate': '2017-02-17', 'studyFirstPostDateStruct': {'date': '2013-06-17', 'type': 'ESTIMATED'}, 'resultsFirstPostDateStruct': {'date': '2017-02-20', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2014-10', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Number of LDLR Gene Mutations', 'timeFrame': '1 year', 'description': 'Number of gene mutations based on the sequencing results in terms of some known genes and suspected novel genes.\n\nc.796 G\\>C and c.1048 C\\>T in the LDLR gene c.1448 G\\>A and c.1720C\\>A in the LDLR gene c.2030 G \\>A and c.1257 C\\>A in the LDLR gene homozygous mutation c.605 T\\>C in the LDLR gene'}], 'secondaryOutcomes': [{'measure': 'LDL-C Reduction Percentage', 'timeFrame': 'pre-treatment and 6-13 years post treatment', 'description': 'plasma LDL-C reduction percentage with lipid-lowering drugs from pre-treatment to the last time follow-up time point\n\nplasma LDL-C reduction percentage calculation: "plasma LDL-C at pre-treatment time point" minus "plasma LDL-C at the last time follow-up time point", and then compared with "plasma LDL-C at pre-treatment time point", namely "plasma LDL-C reduction percentage".'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'conditions': ['Homozygous Familial Hypercholesterolemia']}, 'descriptionModule': {'briefSummary': 'Identify new or novel genes which may impact on cholesterol level, and establish the relationship between those gene mutations with atherosclerosis, as well as responses to lipid-lowering drugs.', 'detailedDescription': 'To better understand the genetics basis for LDL-C elevation and develop an optimized lipid-lowering strategy, we propose to do the following studies:\n\n1. To establish a China HoFH registry, and collect DNA and blood samples from all available family members of each proband (pedigrees);\n2. To detect gene mutations known to cause FH and identify family suitable for future whole genome sequencing aimed to identify novel genes controlling cholesterol levels.\n\n3.To establish the relationship between types of gene mutations and lipid and atherosclerosis profile, as well as responses to lipid-lowering agents.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Homozygous Familial Hypercholesterolemia', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion criteria:\n\nPatients of any age and sex who meet clinical or genetic criteria for hoFH as follows:\n\n* Cutaneous xanthomata before the age of ten years\n* LDLC \\> 13 mmol/L before treatment or \\> 7.76 mmol/L despite treatment\n* Phenotypic features in keeping with HeFH in both parents\n\nExclusion criteria:\n\nInability of patient, or, if less than 18, a parent, to sign informed consent.'}, 'identificationModule': {'nctId': 'NCT01878604', 'briefTitle': 'Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia', 'organization': {'class': 'OTHER', 'fullName': 'Central South University'}, 'officialTitle': 'The Study of Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia', 'orgStudyIdInfo': {'id': 'MISP50469'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Homozygous Familial Hypercholesterolemia', 'description': 'Gene Analysis for Homozygous Familial Hypercholesterolemia cases', 'interventionNames': ['Genetic: Gene analysis', 'Other: Historical data of lipid-lowering drug administration', 'Other: Historical data of plasma lipids, xanthoma changes']}], 'interventions': [{'name': 'Gene analysis', 'type': 'GENETIC', 'description': 'Gene analysis', 'armGroupLabels': ['Homozygous Familial Hypercholesterolemia']}, {'name': 'Historical data of lipid-lowering drug administration', 'type': 'OTHER', 'description': 'Collecting historical data of lipid-lowering drug administration', 'armGroupLabels': ['Homozygous Familial Hypercholesterolemia']}, {'name': 'Historical data of plasma lipids, xanthoma changes', 'type': 'OTHER', 'description': 'Collecting historical data of plasma lipids and xanthoma changes', 'armGroupLabels': ['Homozygous Familial Hypercholesterolemia']}]}, 'contactsLocationsModule': {'locations': [{'zip': '410011', 'city': 'Changsha', 'state': 'Hunan', 'country': 'China', 'facility': 'Cardiology department of 2nd Xiangya Hospital', 'geoPoint': {'lat': 28.19874, 'lon': 112.97087}}], 'overallOfficials': [{'name': 'Shuiping Zhao, Doctor', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Central South University'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Central South University', 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Chief of Cardiology Department, 2nd Xiangya Hospital', 'investigatorFullName': 'Shuiping Zhao', 'investigatorAffiliation': 'Central South University'}}}}