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NIH launches massive effort to unlock secrets of rare vascular diseases

NCT ID NCT02543996

Knowledge-focused Sponsor: National Heart, Lung, and Blood Institute (NHLBI) 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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Sep 17, 2026 · Updated 26 times

Summary

This study aims to collect blood and tissue samples from up to 10,000 people with rare genetic vascular or cardiovascular diseases, as well as their healthy relatives. Researchers will use these samples to identify genetic causes and understand how these diseases work. The goal is to lay the groundwork for future treatments, not to test any specific therapy.

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 research could uncover genetic causes of rare vascular diseases, pointing toward future treatments.
What could go wrong
This is an observational sample-collection study, not a treatment trial. It may not directly lead to therapies, and results could take many years.

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 10,000 people

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

Started

Sep 2015

Expected to finish

May 2050

An estimate. End dates often move.

Lead sponsor

A government research agency

The lead sponsor is the US National Institutes of Health.

Who can take part

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

Who is studied

Affected or unaffected cohorts (including genetic carriers or non-carriers as reference biospecimens)

Ages

1 month to 100 years

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 (SUBJECTS MUST MEET ONE OF THE FOLLOWING): * Age: older than 1 month of age * Affected pregnant women if they have been referred with a known or suspected pathology or if they become pregnant while on study. * Unaffected related pregnant women (including spouses/partners) for cord blood and tissue collection (surgical waste) only at the time of delivery. * Cognitively impaired individuals that are affected * Cognitively impaired individuals that are related to an affected subject. * Subjects willing to provide informed consent. EXCLUSION CRITERIA: * Healthy volunteers unable to give informed consent * Cognitively impaired individuals who are not affected * Cognitively impaired individuals who are not related to affected subjects.

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Conditions

The condition(s) this trial relates to.

cardiovascular disorder Rare Diseases Undiagnosed Diseases

As listed by the trial registrant

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

Cardiovascular disease Undiagnosed diseases

How to take part

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

  1. The places running it

    1 site. 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

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

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