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Worldwide effort to unlock secrets of rare cholesterol disease

NCT ID NCT04815005

Knowledge-focused Sponsor: University of Pennsylvania Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 1,000 people

The number the study aims to enrol. It can still change while the study runs.

Started

Jan 2017

Expected to finish

Dec 2026

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

The registry aims to include data from as many patients diagnosed with HoFH as possible. All patients must be living at time of entry into the database or have been deceased within the last 5 years.

Ages

Children (under 18), adults (18 to 64) and older adults (65 and over)

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * Diagnosis of homozygous familial hypercholesterolemia (HoFH) clinically of genetically determined Exclusion Criteria: * No diagnosis of HoFH

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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.

Homozygous familial hypercholesterolemia

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    4 sites in 3 countries. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

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

    RECRUITING

    Cape Town, South Africa

  • Department of Vascular Medicine, Amsterdam UMC

    RECRUITING

    Amsterdam, Netherlands

  • University of Pennsylvania

    RECRUITING

    Philadelphia, Pennsylvania, 19104, United States

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

    RECRUITING

    Johannesburg, South Africa

More trials for these conditions

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