HoFH, the International Clinical Collaborators Registry
NCT ID: NCT04815005
Last Updated: 2025-12-18
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
1000 participants
OBSERVATIONAL
2017-01-24
2026-12-31
Brief Summary
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Detailed Description
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Patients 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.
Anonymized 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)
Conditions
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Keywords
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Study Design
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CASE_ONLY
CROSS_SECTIONAL
Study Groups
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HoFH
Patients diagnosed with HoFH by their physicians, either based on clinical or genetic criteria.
Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.
Differences in diagnosis, genotype, lipid profile treatment allocation among HoFH patients worldwide.
Interventions
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Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.
Differences in diagnosis, genotype, lipid profile treatment allocation among HoFH patients worldwide.
Eligibility Criteria
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Inclusion Criteria
Exclusion Criteria
ALL
No
Sponsors
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University of Amsterdam
OTHER
University of Cape Town
OTHER
University of Witwatersrand, South Africa
OTHER
University of Pennsylvania
OTHER
Responsible Party
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Principal Investigators
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Marina Cuchel, MD, PhD
Role: PRINCIPAL_INVESTIGATOR
University of Pennsylvania
Locations
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University of Pennsylvania
Philadelphia, Pennsylvania, United States
Department of Vascular Medicine, Amsterdam UMC
Amsterdam, , Netherlands
Department of Medicine, Division of Lipidology and Hatter Institute for Cardiovascular Research in Africa, University of Cape Town
Cape Town, , South Africa
c. Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of Witwatersrand
Johannesburg, , South Africa
Countries
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Central Contacts
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Facility Contacts
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Marina Cuchel, MD, PhD
Role: primary
Lauren Vincent, MRA
Role: backup
G. Kees Hovingh, MD, PhD
Role: primary
Dirk J Blom
Role: primary
Frederick J Raal
Role: primary
References
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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.
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.
Other Identifiers
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HICC
Identifier Type: -
Identifier Source: org_study_id