RecruitingNCT04815005

HoFH, the International Clinical Collaborators Registry

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


Sponsor

University of Pennsylvania

Enrollment

1,000 participants

Start Date

Jan 24, 2017

Study Type

OBSERVATIONAL

Conditions

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

Plain Language Summary

Simplified for easier understanding

This is an international registry study for people who have been diagnosed with homozygous familial hypercholesterolemia (HoFH). HoFH is a rare, inherited condition in which the body cannot properly remove LDL (bad) cholesterol from the blood, leading to dangerously high cholesterol levels from birth and a very high risk of early heart disease. The registry collects information about patients with HoFH from multiple countries to better understand how the disease progresses and how different treatments work. There is no experimental treatment involved — this study only collects medical data. You may be eligible if: - You have been diagnosed with homozygous familial hypercholesterolemia (HoFH), either by clinical assessment or genetic testing - There is no minimum or maximum age requirement You may NOT be eligible if: - You do not have a confirmed diagnosis of HoFH Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Interventions

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

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


Locations(4)

University of Pennsylvania

Philadelphia, Pennsylvania, United States

Department of Vascular Medicine, Amsterdam UMC

Amsterdam, Netherlands

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

Cape Town, South Africa

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

Johannesburg, South Africa

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NCT04815005


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