HoFH, the International Clinical Collaborators Registry
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence..
- Who it may be relevant to
- Registry conditions: Homozygous Familial Hypercholesterolemia. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States, Netherlands, South Africa
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
HoFH, the International Clinical Collaborators - A Global HoFH Data-sharing Platform
Overview
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.
Detailed description
The HICC registry is an observational, multicenter, international registry collecting de-identified clinical and genetic information from patients with homozygous Familial Hypercholesterolemia (HoFH) worldwide.
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)
Interventions
- Other Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.
Differences in diagnosis, genotype, lipid profile treatment allocation among HoFH patients worldwide.
Primary outcome measures
- Number of participants entered into the database [Time frame: Through study completion, an average of 8 years]
Secondary outcome measures (1)
- Untreated and treated LDL-C levels across world income regions [Time frame: Through study completion, an average of 8 years]
Eligibility criteria
Inclusion criteria
- Diagnosis of homozygous familial hypercholesterolemia (HoFH) clinically of genetically determined
Exclusion criteria
- No diagnosis of HoFH
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-only
Study locations
South Africa · 2 centers
- Department of Medicine, Division of Lipidology and Hatter Institute for Cardiovascular Res — Cape Town
- c. Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University — Johannesburg
United States · 1 center
- University of Pennsylvania — Philadelphia
Netherlands · 1 center
- Department of Vascular Medicine, Amsterdam UMC — Amsterdam
Publications
- 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 40250039
- 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 PMID 35101175
Identifiers
NCT: NCT04815005 · HICC