Ignite Creation Date:
2025-12-25 @ 3:08 AM
Ignite Modification Date:
2025-12-26 @ 1:47 AM
Study NCT ID:
NCT04815005
Status:
RECRUITING
Last Update Posted:
2025-12-18
First Post:
2021-03-04
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
HoFH, the International Clinical Collaborators Registry
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D000090542', 'term': 'Homozygous Familial Hypercholesterolemia'}, {'id': 'C566739', 'term': 'Multiple Pterygium Syndrome, Autosomal Dominant'}, {'id': 'D006937', 'term': 'Hypercholesterolemia'}, {'id': 'D006952', 'term': 'Hyperlipoproteinemia Type III'}], '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'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D003710', 'term': 'Demography'}, {'id': 'D005838', 'term': 'Genotype'}], 'ancestors': [{'id': 'D011154', 'term': 'Population Characteristics'}, {'id': 'D015991', 'term': 'Epidemiologic Measurements'}, {'id': 'D011634', 'term': 'Public Health'}, {'id': 'D004778', 'term': 'Environment and Public Health'}, {'id': 'D055614', 'term': 'Genetic Phenomena'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 1000}, 'targetDuration': '1 Day', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2017-01-24', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-12', 'completionDateStruct': {'date': '2026-12-31', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-12-10', 'studyFirstSubmitDate': '2021-03-04', 'studyFirstSubmitQcDate': '2021-03-23', 'lastUpdatePostDateStruct': {'date': '2025-12-18', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2021-03-24', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2026-12-31', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Number of participants entered into the database', 'timeFrame': 'Through study completion, an average of 8 years', 'description': 'Number of study participants with homozygous familial hypercholesterolemia'}], 'secondaryOutcomes': [{'measure': 'Untreated and treated LDL-C levels across world income regions', 'timeFrame': 'Through study completion, an average of 8 years', 'description': 'Number of treated versus number of untreated subjects with relevant LDL-C levels'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Homozygous Familial Hypercholesterolemia', 'Autosomal Dominant', 'Hypercholesterolemia', 'Autosomal Recessive Hypercholesterolemia', 'Registry'], 'conditions': ['Homozygous Familial Hypercholesterolemia']}, 'referencesModule': {'references': [{'pmid': '40250039', 'type': 'DERIVED', 'citation': 'Mulder JWCM, Schonck WAM, Tromp TR, Reijman MD, Reeskamp LF, Hovingh GK, Blom DJ, Roeters van Lennep JE. Real-world family planning and pregnancy practices in women with homozygous familial hypercholesterolemia. Atherosclerosis. 2025 May;404:119187. doi: 10.1016/j.atherosclerosis.2025.119187. Epub 2025 Apr 3.'}, {'pmid': '35101175', 'type': 'DERIVED', 'citation': 'Tromp TR, Hartgers ML, Hovingh GK, Vallejo-Vaz AJ, Ray KK, Soran H, Freiberger T, Bertolini S, Harada-Shiba M, Blom DJ, Raal FJ, Cuchel M; Homozygous Familial Hypercholesterolaemia International Clinical Collaborators. Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study. Lancet. 2022 Feb 19;399(10326):719-728. doi: 10.1016/S0140-6736(21)02001-8. Epub 2022 Jan 28.'}]}, 'descriptionModule': {'briefSummary': 'Homozygous familial hypercholesterolemia (HoFH), a rare inherited disorder caused by bi-allelic mutations in the LDL Receptor pathway, is characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) from birth and premature atherosclerotic cardiovascular disease (ASCVD). Our current knowledge about HoFH is disjointed and largely stems from relatively small case series and expert opinion. HICC (Homozygous FH International Clinical Collaborators) is a global consortium of clinicians who are contributing de-identified data of patients diagnosed with HoFH with the goal to advance our understanding of this rare disease.', 'detailedDescription': 'The HICC registry is an observational, multicenter, international registry collecting de-identified clinical and genetic information from patients with homozygous Familial Hypercholesterolemia (HoFH) worldwide.\n\nPatients are eligible to be enrolled in the registry based on the diagnosis of HoFH by the treating clinician, irrespective of how the diagnosis was made. To generate up-to-date data reflecting current rather than historic practice, patients who died or were lost to follow-up prior to 2010 are excluded.\n\nAnonymized data on demographics, type of HoFH diagnosis (clinical and/or based on the results of a genetic test), genetic results, (cardiovascular) medical history, relevant family history, physical examination, laboratory measurements, lipid lowering treatment and cardiovascular imaging are collected for 3 different time points: at diagnosis, at enrolment and at time of best lipid profile (if this is different from time at enrolment). Data are collected using pre-definite electronic case report forms to ensure uniformity of data collected. Primary analysis will be cross-sectional (e.g. based on country of residence, age, etc)'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'The registry aims to include data from as many patients diagnosed with HoFH as possible. All patients must be living at time of entry into the database or have been deceased within the last 5 years.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Diagnosis of homozygous familial hypercholesterolemia (HoFH) clinically of genetically determined\n\nExclusion Criteria:\n\n* No diagnosis of HoFH'}, 'identificationModule': {'nctId': 'NCT04815005', 'acronym': 'HICC', 'briefTitle': 'HoFH, the International Clinical Collaborators Registry', 'organization': {'class': 'OTHER', 'fullName': 'University of Pennsylvania'}, 'officialTitle': 'HoFH, the International Clinical Collaborators - A Global HoFH Data-sharing Platform', 'orgStudyIdInfo': {'id': 'HICC'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'HoFH', 'description': 'Patients diagnosed with HoFH by their physicians, either based on clinical or genetic criteria.', 'interventionNames': ['Other: Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.']}], 'interventions': [{'name': 'Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.', 'type': 'OTHER', 'description': 'Differences in diagnosis, genotype, lipid profile treatment allocation among HoFH patients worldwide.', 'armGroupLabels': ['HoFH']}]}, 'contactsLocationsModule': {'locations': [{'zip': '19104', 'city': 'Philadelphia', 'state': 'Pennsylvania', 'status': 'RECRUITING', 'country': 'United States', 'contacts': [{'name': 'Marina Cuchel, MD, PhD', 'role': 'CONTACT', 'email': 'mcuchel@pennmedicine.upenn.edu', 'phone': '215-662-7188'}, {'name': 'Lauren Vincent, MRA', 'role': 'CONTACT', 'email': 'laurv@pennmedicine.upenn.edu', 'phone': '2156155448'}, {'name': 'Marina Cuchel, MD, PhD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'University of Pennsylvania', 'geoPoint': {'lat': 39.95238, 'lon': -75.16362}}, {'city': 'Amsterdam', 'status': 'RECRUITING', 'country': 'Netherlands', 'contacts': [{'name': 'G. Kees Hovingh, MD, PhD', 'role': 'CONTACT', 'email': 'g.k.hovingh@amsterdamumc.nl'}, {'name': 'G. Kees Hovingh, MD, PhD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Department of Vascular Medicine, Amsterdam UMC', 'geoPoint': {'lat': 52.37403, 'lon': 4.88969}}, {'city': 'Cape Town', 'status': 'RECRUITING', 'country': 'South Africa', 'contacts': [{'name': 'Dirk J Blom', 'role': 'CONTACT', 'email': 'dirk.blom@uct.ac.za'}, {'name': 'Dirk J Blom', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Department of Medicine, Division of Lipidology and Hatter Institute for Cardiovascular Research in Africa, University of Cape Town', 'geoPoint': {'lat': -33.92584, 'lon': 18.42322}}, {'city': 'Johannesburg', 'status': 'RECRUITING', 'country': 'South Africa', 'contacts': [{'name': 'Frederick J Raal', 'role': 'CONTACT', 'email': 'frederick.raal@wits.ac.za'}, {'name': 'Frederick J Raal, PhD', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'c. Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of Witwatersrand', 'geoPoint': {'lat': -26.20227, 'lon': 28.04363}}], 'centralContacts': [{'name': 'Marina Cuchel, MD, PhD', 'role': 'CONTACT', 'email': 'mcuchel@pennmedicine.upenn.edu', 'phone': '2156627188'}, {'name': 'Lauren Vincent, MRA', 'role': 'CONTACT', 'email': 'laurv@pennmedicine.upenn.edu', 'phone': '2156155448'}], 'overallOfficials': [{'name': 'Marina Cuchel, MD, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'University of Pennsylvania'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University of Pennsylvania', 'class': 'OTHER'}, 'collaborators': [{'name': 'University of Amsterdam', 'class': 'OTHER'}, {'name': 'University of Cape Town', 'class': 'OTHER'}, {'name': 'University of Witwatersrand, South Africa', 'class': 'OTHER'}], 'responsibleParty': {'type': 'SPONSOR'}}}}