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International Registry for Homozygous Familial Hypercholesterolemia (HoFH)

This study is an international registry gathering information about people with Homozygous Familial Hypercholesterolemia (HoFH), a rare inherited condition causing very high cholesterol from birth. The goal is to better understand HoFH by collecting de-identified (anonymous) data from patients worldwide. Researchers will look at differences in diagnosis, genetic information, cholesterol levels, and treatments among HoFH patients. This registry aims to collect data from about 1000 participants. You may be able to join if you have a diagnosis of HoFH, either from a doctor's evaluation or genetic testing.

Study design
This is an observational study, meaning researchers will collect information without giving any new treatments. It aims to include about 1000 participants globally.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
Information will be collected throughout the study, which is expected to average 8 years.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT04815005

HoFH, the International Clinical Collaborators Registry

Recruiting
Not specifiedAll AgesObservational
University of Pennsylvania
~1,000 participants
Updated 2025-12-18 on ClinicalTrials.gov
What's tested:Demographics, diagnosis type, genotype, lipid profile, treatment allocation, country of residence.

At a glance

Recruiting sites
4 of 4 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Number of participants entered into the database
Measured over Through study completion, an average of 8 years

Conditions

Homozygous Familial Hypercholesterolemia

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NCT04815005

Where you'd take part

This study runs at 4 sites. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

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

    Johannesburg, South Africastudy coordinator listed

    Recruiting

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

    Cape Town, South Africastudy coordinator listed

    Recruiting

  • Department of Vascular Medicine, Amsterdam UMC

    Amsterdam, Netherlandsstudy coordinator listed

    Recruiting

  • University of Pennsylvania

    Philadelphia, Pennsylvaniastudy coordinator listed

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • Marina Cuchel, MD, PhD · PRINCIPAL_INVESTIGATOR · University of Pennsylvania

Who to contact

Marina Cuchel, MD, PhD
[email protected]
2156627188
Email the study team

Opens a ready-to-send draft in your own email app — review before sending.

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Eligibility criteria

Inclusion

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

Exclusion

No diagnosis of HoFH

What this trial measures

  • Number of participants entered into the databaseThrough study completion, an average of 8 years

    Number of study participants with homozygous familial hypercholesterolemia