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NIH study probes hidden impact of stiff arteries in rare genetic condition

NCT ID NCT02840448

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 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 This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 13 times

Summary

This study looked at how blood vessel stiffness affects organs like the heart, brain, kidneys, and gut in people with Williams Syndrome (WS) or supravalvular aortic stenosis (SVAS). Researchers compared 159 participants (ages 3–85) with these conditions to healthy volunteers over up to 10 years using imaging, blood tests, and cognitive assessments. The goal was to better understand the health impacts of reduced elasticity in blood vessels, not to test a 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

159 people

The number who actually took part.

Started

Dec 2016

Finished

Apr 2024

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

Primary clinical along with matched healthy controls

Ages

3 to 85 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: We will recruit individuals with people with WS, SVAS or other WS region variation conditions (cases) and demographically similar control (unaffected) participants. Children or adults with WS must: * be between the ages of 3 and 85 * have a presumed or confirmed diagnosis of WS (genetic testing is not performed in this research study). * have a parent/guardian available to provide consent and assist in answering medical questions * not be pregnant Children or adults with SVAS must: * be between the ages of 3 and 85 * have clinical features suggestive of SVAS or an SVAS-like condition OR have no clinical features of SVAS or an SVAS-like condition but have genetic testing results that imply affected status (SVAS has decreased penetrance). No genetic testing will be done as part of this protocol. * have a parent/guardian available to provide consent and assist in answering medical questions if they are a minor (not applicable to adults) Children or adults with WS region gene changes: * be between the ages of 3 and 85 * have clinical or research genetic testing that reports gene variation in a non-ELN gene in the WS region. * have a parent/guardian available to provide consent and assist in answering medical questions if they are a minor or if they have cognitive impairment that would impede their ability to consent on their own behalf. Children or adults participating in the study as part of control group must: * be between the ages of 3 and 85 * not have clinical features or genetic profile suggestive of WS, SVAS or an SVAS-like condition. No genetic testing will be performed in this research study. * have a parent/guardian available to provide consent and assist in answering medical questions if they are a minor (not applicable to adults)

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Conditions

The condition(s) this trial relates to.

Aortic Stenosis, Supravalvular cardiovascular disorder supravalvular aortic stenosis Williams syndrome

As listed by the trial registrant

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

Cardiovascular disease Supravalvular aortic stenosis Williams syndrome

Contacts and locations

Locations

  • National Institutes of Health Clinical Center

    Bethesda, Maryland, 20892, United States

  • Washington University School of medicine

    St Louis, Missouri, 63110-1093, United States

More trials for these conditions

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