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WS-SAVE Study (Williams Syndrome Skin and Vessel Elasticity Study)

NCT02692846 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 43

Last updated 2026-03-17

No results posted yet for this study

Summary

Background:

Williams Syndrome (WS) is a genetic disorder. People with WS have less of a protein that allows parts of the body to stretch than other individuals. Researchers are interested in the stretchiness of the skin of people with WS and how it may relate to cardiovascular problems some people with WS develop. They are also interested in identifying exposures such as medications that may change the elasticity of the skin and vessels.

Objective:

To learn more about the skin and blood vessels in individuals with WS and how those tissues change over time.

Eligibility:

People ages 5-70 with WS.

People ages 1-70 with a medical condition that affects connective tissue.

Design:

Participants will be screened with a review of their medical records.

Participants will have 1 visit. Participants with WS may do so at a Williams Syndrome Association family meeting or camp, or at NIH. Other participants will be seen at NIH.

During the visit, participants will have height, weight, and blood pressure measured.

Researchers will listen to the participant s chest and abdomen.

Participants skin will be examined. It may be photographed.

Participants will have photos of their eyes and face taken.

Researchers will use a DermaLab Suction Cup Probe. A small suction cup will be placed on the arm with a sticker. It will pull lightly on the skin. This allows a computer to measure skin flexibility.

Researchers will use a SphygmoCor. A probe that looks like a dull pencil will be placed on the wrist, neck, and groin area. A computer will measure how fast the pulse is moving and will estimate blood vessel flexibility.

Participants may be invited to have these procedures repeated at a later date (2 years from now or more).

Conditions

Sponsors & Collaborators

  • National Heart, Lung, and Blood Institute (NHLBI)

    lead NIH

Principal Investigators

  • Manfred Boehm, M.D. · National Heart, Lung, and Blood Institute (NHLBI)

Eligibility

Min Age
1 Year
Max Age
70 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2017-03-03
Primary Completion
2017-12-15
Completion
2017-12-15

Countries

  • United States

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02692846 on ClinicalTrials.gov