HoFH, the International Clinical Collaborators Registry

Recruiting

• Conditions: Homozygous Familial Hypercholesterolemia
• Interventions: Other: Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.

• Registration Number: NCT04815005
• Lead Sponsor: University of Pennsylvania

Brief Summary

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)

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Study Start: 2017-01-24
• Study First Submitted: 2021-03-04
• Study First Submitted QC: 2021-03-23
• Study First Posted: 2021-03-24
• Status Verified: 2024-12
• Last Update Submitted: 2024-12-04
• Last Update Posted: 2024-12-09
• Primary Completion: 2025-12-31
• Study Completion: 2025-12-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 1000

Inclusion Criteria

• Diagnosis of homozygous familial hypercholesterolemia (HoFH) clinically of genetically determined

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Exclusion Criteria

• No diagnosis of HoFH

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
HoFH	Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.	Patients diagnosed with HoFH by their physicians, either based on clinical or genetic criteria.

Primary Outcome Measures

Name	Time	Method
Number of participants entered into the database	Through study completion, an average of 8 years	Number of study participants with homozygous familial hypercholesterolemia

Secondary Outcome Measures

Name	Time	Method
Untreated and treated LDL-C levels across world income regions	Through study completion, an average of 8 years	Number of treated versus number of untreated subjects with relevant LDL-C levels

Trial Locations

Locations (4)

c. Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of Witwatersrand; 🇿🇦 Johannesburg, South Africa

Department of Vascular Medicine, Amsterdam UMC; 🇳🇱 Amsterdam, Netherlands

University of Pennsylvania; 🇺🇸 Philadelphia, Pennsylvania, United States

Department of Medicine, Division of Lipidology and Hatter Institute for Cardiovascular Research in Africa, University of Cape Town; 🇿🇦 Cape Town, South Africa