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Stretchy skin may reveal heart risks in rare genetic condition

NCT ID NCT02692846

Knowledge-focused Sponsor: National Heart, Lung, and Blood Institute (NHLBI) Source: ClinicalTrials.gov ↗

What the study statuses mean

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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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Aug 14, 2026 · Updated 6 times

Summary

This study looked at how stretchy the skin and blood vessels are in people with Williams syndrome, a genetic condition that can cause heart problems. Researchers measured skin and pulse speed in 43 participants aged 5 to 70. The goal was to learn how these tissues change over time and what factors might affect heart health. No treatments were tested.

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

43 people

The number who actually took part.

Started

Mar 2017

Finished

Dec 2017

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

We will recruit three subject populations, individuals with WS and two control populations, one unaffected and one with known connective tissue disease. Affected subjects being screened for a research protocol or already on a research protocol at the NIH Clinical Center (CC) may be contacted by their physician about this study.@@@Subjects who are able to visit the NIH CC will be enrolled in person by the PI or approved AIs of the study, as mentioned in the previous section. For off-site subjects, the PI or approved AIs of this protocol may conduct an in-person, off-site meeting with the subject to carefully explain the research objectives, procedure(s), and relevant risks and discomforts of this protocol or attend WSA meetings that occur every 2 years and consent the subject at the meeting place.

Ages

1 year to 70 years

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/EXCLUSION CRITERIA: For WS participants: Individuals participating in this study must: * Have a diagnosis of WS * Be between the ages of 5 and 70 years old * Be able to tolerate blood pressure measurements * Have a parent/guardian available to provide consent and assist in answering medical questions. * Express willingness to schedule an in-person assessment with us. The only indication for study staff to terminate an individual s participation in this study would be if the family is unable to schedule an in-person assessment with us. For unaffected control participants: Individuals participating in this study must: * Not have a diagnosis of WS or other connective tissue disease. * Be between the ages of 1 and 70 years old * If a minor, have a parent/guardian available to provide consent and assist in answering medical questions. For control participants with connective tissue disease: Individuals participating in this study must: * Not have a diagnosis of WS * Have a clinical or molecular diagnosis of connective tissue disease. * Be between the ages of 1 and 70 years old * If a minor, have a parent/guardian available to provide consent and assist in answering medical questions.

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Conditions

The condition(s) this trial relates to.

cardiovascular disorder connective tissue disorder hypertensive disorder Williams syndrome

As listed by the trial registrant

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

Cardiovascular disease Elastin gene deletion Hypertension Multisystem developmental disorder Williams syndrome

Contacts and locations

Locations

  • National Institutes of Health Clinical Center

    Bethesda, Maryland, 20892, United States

More trials for these conditions

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