Actively Recruiting

All Genders
NCT04815005

HoFH, the International Clinical Collaborators Registry

Led by University of Pennsylvania · Updated on 2025-12-18

1000

Participants Needed

4

Research Sites

518 weeks

Total Duration

On this page

Sponsors

U

University of Pennsylvania

Lead Sponsor

U

University of Amsterdam

Collaborating Sponsor

AI-Summary

What this Trial Is About

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.

CONDITIONS

Official Title

HoFH, the International Clinical Collaborators Registry

Who Can Participate

All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Diagnosis of homozygous familial hypercholesterolemia (HoFH) confirmed clinically or by genetic testing
Not Eligible

You will not qualify if you...

  • No diagnosis of homozygous familial hypercholesterolemia (HoFH)

AI-Screening

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Trial Site Locations

Total: 4 locations

1

University of Pennsylvania

Philadelphia, Pennsylvania, United States, 19104

Actively Recruiting

2

Department of Vascular Medicine, Amsterdam UMC

Amsterdam, Netherlands

Actively Recruiting

3

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

Cape Town, South Africa

Actively Recruiting

4

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

Johannesburg, South Africa

Actively Recruiting

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Research Team

M

Marina Cuchel, MD, PhD

CONTACT

L

Lauren Vincent, MRA

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

1

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