Ignite Creation Date:
2025-12-24 @ 7:00 PM
Ignite Modification Date:
2026-01-01 @ 2:26 PM
Study NCT ID:
NCT04929457
Status:
ENROLLING_BY_INVITATION
Last Update Posted:
2023-03-16
First Post:
2021-05-28
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Evaluation of a Digiphysical Screening Method to Identify and Diagnose Familial Hypercholesterolemia
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D006938', 'term': 'Hyperlipoproteinemia Type II'}, {'id': 'D006937', 'term': 'Hypercholesterolemia'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D003324', 'term': 'Coronary Artery Disease'}, {'id': 'D000083242', 'term': 'Ischemic Stroke'}, {'id': 'D058729', 'term': 'Peripheral Arterial Disease'}], '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'}, {'id': 'D003327', 'term': 'Coronary Disease'}, {'id': 'D017202', 'term': 'Myocardial Ischemia'}, {'id': 'D006331', 'term': 'Heart Diseases'}, {'id': 'D001161', 'term': 'Arteriosclerosis'}, {'id': 'D001157', 'term': 'Arterial Occlusive Diseases'}, {'id': 'D014652', 'term': 'Vascular Diseases'}, {'id': 'D020521', 'term': 'Stroke'}, {'id': 'D002561', 'term': 'Cerebrovascular Disorders'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D050197', 'term': 'Atherosclerosis'}, {'id': 'D016491', 'term': 'Peripheral Vascular Diseases'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 30000}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'ENROLLING_BY_INVITATION', 'startDateStruct': {'date': '2021-09-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2023-03', 'completionDateStruct': {'date': '2033-09', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2023-03-15', 'studyFirstSubmitDate': '2021-05-28', 'studyFirstSubmitQcDate': '2021-06-10', 'lastUpdatePostDateStruct': {'date': '2023-03-16', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2021-06-18', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2031-09', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Cardiovascular disease burden in patients with newly diagnosed Familial Hypercholesterolemia', 'timeFrame': 'Through study completion, until 2041.', 'description': 'Presence of ischemic heart disease, ischemic cerebrovascular disease and/or peripheral artery disease in relation to age in patients with newly diagnosed Familial Hypercholesterolemia. Data is reported after 2, 5, 10, 15 and 20 years.'}, {'measure': 'Change in cardiovascular disease burden in patients with diagnosed Familial Hypercholesterolemia', 'timeFrame': 'Through study completion, until 2041.', 'description': 'Change in presence of ischemic heart disease, ischemic cerebrovascular disease and/or peripheral artery disease in relation to age in patients diagnosed Familial Hypercholesterolemia. Comparison is done between baseline and after 2, 5, 10, 15 and 20 years.'}, {'measure': 'Impact of mutation positive Familial Hypercholesterolemia on cardiovascular disease burden', 'timeFrame': 'Through study completion, until 2041.', 'description': 'Comparison of cardiovascular disease burden (presence of ischemic heart disease, ischemic cerebrovascular disease and/or peripheral artery disease) in relation to age in patients with mutation positive versus negative Familial Hypercholesterolemia. Data is reported after 2, 5, 10, 15 and 20 years.'}, {'measure': 'Comparison of cardiovascular disease burden between patients with diagnosed Familial Hypercholesterolemia and individuals aquitted from the diagnose', 'timeFrame': 'Through study completion, until 2041.', 'description': 'Comparison of cardiovascular disease burden (presence of ischemic heart disease, ischemic cerebrovascular disease and/or peripheral artery disease) in relation to age between patients diagnosed with Familial Hypercholesterolemia and individuals screened but acquitted of the diagnose.\n\nData is reported after 2, 5, 10, 15 and 20 years.'}], 'secondaryOutcomes': [{'measure': 'Key efficacy numbers and ratios of screened and diagnosed for the digiphysical screening method to diagnose Familial Hypercholesterolemia', 'timeFrame': 'Through study completion, until 2041.', 'description': 'The efficacy of the digiphysical screening method will be assessed by key numbers and ratios:\n\n* screened\n* biochemically tested with cholesterol measurement\n* genetically tested\n* diagnosed with Familial Hypercholesterolemia\n* biochemically tested/screened\n* genetically tested/screened\n* diagnosed with Familial Hypercholesterolemia/screened\n\nData is reported after 2, 5, 10, 15 and 20 years.'}, {'measure': 'Health economic aspects of the digiphysical screening method to diagnose Familial Hypercholesterolemia', 'timeFrame': 'Through study completion, until 2041.', 'description': 'Costs and cost-benefits for digiphysical screening and treatment of individuals diagnosed with Familial Hypercholesterolemia.\n\nData is reported after 2, 5, 10, 15 and 20 years.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['familial hypercholesterolemia', 'cardiovascular disease', 'coronary artery disease', 'ischemic stroke', 'peripheral artery disease', 'hypercholesterolemia'], 'conditions': ['Familial Hypercholesterolemia', 'Hypercholesterolemia']}, 'descriptionModule': {'briefSummary': 'Longitudinal and observational registry-based cohort study of individuals participating in the national digiphysical screening program for Familial Hypercholesterolemia. The information collected in the screening process will be combined in pseudo-anonymous form with data from the National Board of Health and Welfare (registries: Cause of Death, Diagnoses according to International Classification of Diseases (ICD) and Prescribed drugs) and Statistic Sweden (Longitudinal integrated database for health insurance and labour market studies). Primary analysis: association between Familial Hypercholesterolemia and cardiovascular disease. Secondary analysis: efficacy and health economic aspects of digiphysical screening for Familial Hypercholesterolemia.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'All individuals that partake in the Swedish national digiphysical screening program for Familial Hypercholesterolemia will be asked to give personal informed consent to participate in the longitudinal observational cohort study.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Swedish personal identification number\n\nExclusion Criteria:\n\n* Decline informed consent'}, 'identificationModule': {'nctId': 'NCT04929457', 'acronym': 'DigiLipids', 'briefTitle': 'Evaluation of a Digiphysical Screening Method to Identify and Diagnose Familial Hypercholesterolemia', 'organization': {'class': 'OTHER', 'fullName': 'Karolinska Institutet'}, 'officialTitle': 'Evaluation of Digiphysical Screening for Familial Hypercholesterolemia - Efficacy of Digiphysical Screening, Effects on Cardiovascular Morbidity and Mortality and Health Economic Aspects', 'orgStudyIdInfo': {'id': 'DigiLipids'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Individuals screened for Familial Hypercholesterolemia', 'description': 'Individuals participating in diagnostic activities in the digiphysical health care screening program for Familial Hypercholesterolemia and have provided informed consent are included in the cohort.'}]}, 'contactsLocationsModule': {'locations': [{'zip': 'SE-14186', 'city': 'Stockholm', 'country': 'Sweden', 'facility': 'Karolinska university hospital', 'geoPoint': {'lat': 59.32938, 'lon': 18.06871}}], 'overallOfficials': [{'name': 'Jonas Brinck, MD PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Dept. of Medicine Huddinge H7, Karolinska Institute, Stockholm'}]}, 'ipdSharingStatementModule': {'timeFrame': 'First result anticipated two years after start.', 'ipdSharing': 'YES', 'description': 'Upon reasonable request data sharing is possible after discussion with responsible researchers.', 'accessCriteria': 'Ethical committee approval Purpose to publish results in peer-reviewed international scientific journal'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Karolinska Institutet', 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Principal Investigator', 'investigatorFullName': 'Jonas Brinck', 'investigatorAffiliation': 'Karolinska Institutet'}}}}