Worldwide effort to unlock secrets of rare cholesterol disease

NCT ID NCT04815005

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study is building a global database of 1000 people with homozygous familial hypercholesterolemia (HoFH), a rare inherited condition causing extremely high cholesterol from birth. Researchers are gathering de-identified medical data from clinics around the world to better understand the disease, how it is diagnosed, and how it is treated. The goal is to improve knowledge and care for this serious condition.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to

If successful, this could lead to a clearer picture of how HoFH affects people around the world and help guide better treatment strategies.

What could go wrong

This is an observational data-sharing study, not a treatment trial. It will not directly test any new drug or therapy, and results may take years to influence patient care.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA are added.

Our safety recommendation!

By submitting, you agree to our Terms of use

Conditions

The condition(s) this trial relates to.

contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A homozygous familial hypercholesterolemia Hypercholesterolemia Hyperlipoproteinemia Type III

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

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

    RECRUITING

    Cape Town, South Africa

    Contact Email: •••••@•••••

    Contact

  • Department of Vascular Medicine, Amsterdam UMC

    RECRUITING

    Amsterdam, Netherlands

    Contact Email: •••••@•••••

    Contact

  • University of Pennsylvania

    RECRUITING

    Philadelphia, Pennsylvania, 19104, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

    Contact Phone: •••-•••-•••• Email: •••••@•••••

    Contact

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

    RECRUITING

    Johannesburg, South Africa

    Contact Email: •••••@•••••

    Contact