HoFH, the International Clinical Collaborators Registry

Last updated: December 4, 2024
Sponsor: University of Pennsylvania
Overall Status: Active - Recruiting

Phase

N/A

Condition

Familial Hypercholesterolemia

Hypercholesterolemia

Treatment

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

Clinical Study ID

NCT04815005
HICC
  • All Genders

Study 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.

Eligibility Criteria

Inclusion

Inclusion Criteria:

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

Exclusion

Exclusion Criteria:

  • No diagnosis of HoFH

Study Design

Total Participants: 1000
Treatment Group(s): 1
Primary Treatment: Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.
Phase:
Study Start date:
January 24, 2017
Estimated Completion Date:
December 31, 2025

Study 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)

Connect with a study center

  • Department of Vascular Medicine, Amsterdam UMC

    Amsterdam,
    Netherlands

    Active - Recruiting

  • Department of Medicine, Division of Lipidology and Hatter Institute for Cardiovascular Research in Africa, University of Cape Town

    Cape Town,
    South Africa

    Active - Recruiting

  • c. Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of Witwatersrand

    Johannesburg,
    South Africa

    Active - Recruiting

  • University of Pennsylvania

    Philadelphia, Pennsylvania 19104
    United States

    Active - Recruiting

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