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Massive study to unravel genetic mysteries of aortic disease

NCT ID NCT04005976

Knowledge-focused Sponsor: The University of Texas Health Science Center, Houston 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 gathering 5,000 people with certain gene changes that raise the risk of aortic disease (like aneurysms or dissections). Researchers will track their health over time to see how these genes affect the condition. The goal is to better predict and manage the disease, not to test a new treatment.

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 5,000 people

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

Started

Jun 2016

Expected to finish

Jan 2037

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

Individuals with a known mutation for H-TAD and their relatives who also carry the mutation

Ages

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

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

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: * Patients and their relatives with a confirmed pathogenic, likely pathogenic variant, or variant of unknown clinical significance in at least one of the H-TAD genes (i.e. TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3, ACTA2, MYH11, MYLK, PRKG1, MAT2A, MFAP5, LOX, COL3A1, FOXE3, and FBN1). * Patients of all ages, sex and race for which informed consent can be obtained. Exclusion Criteria: * Patients without a confirmed causative variant for H-TAD.

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Conditions

The condition(s) this trial relates to.

aortic aneurysm aortic disorder Aortic Dissection familial thoracic aortic aneurysm and aortic dissection

As listed by the trial registrant

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

Aortic aneurysm Aortic diseases Aortic dissection

How to take part

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

  1. The places running it

    20 sites in 6 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

  • Baylor College of Medicine

    RECRUITING

    Houston, Texas, 77030, United States

  • Foothills Medical Centre / Alberta Health Services

    RECRUITING

    Calgary, Alberta, T2N 2T9, Canada

  • Ghent University Hospital (UZ Gent)

    RECRUITING

    Ghent, East Flanders, 9000, Belgium

  • Great Ormond Street Hospital

    RECRUITING

    London, England, WC1N 3JH, United Kingdom

  • HOAG memorial hospital presbyterian

    RECRUITING

    Newport Beach, California, 92663, United States

  • Hoag Memorial Hospital Presbyterian

    RECRUITING

    Newport Beach, California, 92663, United States

  • Hospital Universitari Vall d'Hebron

    RECRUITING

    Barcelona, Catalonia, 08035, Spain

  • Inova Health System

    RECRUITING

    Falls Church, Virginia, 22042, United States

  • Massachusetts General Hospital

    RECRUITING

    Boston, Massachusetts, 02114, United States

  • Oregon Health & Science University

    RECRUITING

    Portland, Oregon, 97239, United States

  • St. Francis Hospital (Catholic Health)

    RECRUITING

    Roslyn, New York, 11576, United States

  • Sutter Health

    RECRUITING

    Sacramento, California, 95816, United States

  • Texas Children's Hospital

    RECRUITING

    Houston, Texas, 77030, United States

  • The University of Texas Health Science Center at Houston

    RECRUITING

    Houston, Texas, 77030, United States

  • Toronto General Hospital (UHN)

    RECRUITING

    Toronto, Ontario, M5G 2C4, Canada

  • University of Kentucky

    RECRUITING

    Lexington, Kentucky, 40536, United States

  • University of Michigan

    RECRUITING

    Ann Arbor, Michigan, 48109, United States

  • University of Nebraska Medical Center

    RECRUITING

    Omaha, Nebraska, 68198, United States

  • University of Sydney

    RECRUITING

    Sydney, New South Wales, 2006, Australia

  • Washington University in St. Louis

    RECRUITING

    St Louis, Missouri, 63110, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.