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NCT Number: NCT04815005

HoFH, the International Clinical Collaborators Registry

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.

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Key information

Conditions

Homozygous Familial Hypercholesterolemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dyslipidemias Genetic Diseases, Inborn Hypercholesterolemia Hyperlipidemias Hyperlipoproteinemia Type II Hyperlipoproteinemia Type III Hyperlipoproteinemias Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Metabolic Diseases Metabolism, Inborn Errors Multiple Pterygium Syndrome, Autosomal Dominant Nutritional and Metabolic Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Department of Vascular Medicine, Amsterdam UMC, Amsterdam, Netherlands

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About this study

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)

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Exclusion criteria

  • No diagnosis of HoFH

Treatment and study plan

Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.

Other

Differences in diagnosis, genotype, lipid profile treatment allocation among HoFH patients worldwide.

Primary outcomes

  1. Number of participants entered into the database

    Time frame: Through study completion, an average of 8 years

    Number of study participants with homozygous familial hypercholesterolemia

Secondary outcomes

  1. Untreated and treated LDL-C levels across world income regions

    Time frame: Through study completion, an average of 8 years

    Number of treated versus number of untreated subjects with relevant LDL-C levels

Study contacts

Contact information is provided by the study sponsor or research team.

Lauren Vincent, MRA

CONTACT

[email protected]

2156155448

Marina Cuchel, MD, PhD

CONTACT

[email protected]

2156627188

Sponsors and collaborators

Lead sponsor

University of Pennsylvania

Other

Collaborators

  • University of Amsterdam
  • University of Cape Town
  • University of Witwatersrand, South Africa

Registry information

Official study title

HoFH, the International Clinical Collaborators - A Global HoFH Data-sharing Platform

Acronym: HICC

Important dates

Study start
2017
Primary completion
2026
Study completion
2026
First posted
Mar 24, 2021
Registry last updated
Dec 18, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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