Completed

NCT Number: NCT02692846

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

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).

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Key information

Conditions

Williams Syndrome Aortic Stenosis, Supravalvular Aortic Valve Disease Aortic Valve Stenosis Cardiovascular Disease Cardiovascular Diseases Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Elastin Gene Deletion Genetic Diseases, Inborn Heart Diseases Heart Valve Diseases Hypertension Intellectual Disability Multisystem Developmental Disorder Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations Skin and Connective Tissue Diseases Vascular Diseases

Age range

1 year–70 year

Sex eligibility

All sexes

Study type

Observational

Primary location

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

About this study

Williams syndrome (WS) is a multisystem developmental disorder caused by deletion of 26-28 genes, including the elastin gene, located on chromosome 7q11.23. Cardiovascular disease in WS, including obstructive vascular disease and hypertension, and relatively mild skin changes are caused by the elastin gene deletion. Even though all WS subjects are missing one copy of this gene, the expression of cardiovascular problems is highly variable, ranging from no significant disease to severe generalized arteriopathy leading to infant death. The causes of vascular variability are currently unknown, and male gender is the only disease modifier described to date. Clinically, skin is described as abnormally soft, smooth and easily mobilized , while ultrastructurally the elastic fibers are abnormal with reduced amorphous elastin.

The overall objective of this study is to establish quantitative norms that can be used to determine the severity of vascular disease in elastin insufficiency and then to identify risk factors that contribute to that variability. It is also important to determine how stable/variable these findings are over time.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

To identify risk factors that contribute to the variability in cardiovascular and skin phenotype in individuals with Williams syndrome, primarily focusing on differences in elasticity and compliance

Time frame: 2-4
- clinical and objective assessment of the vasculature and skin in individuals with WS, focusing on its elasticity; 2) analysis as to whether skin and vascular elasticity correlate with each other. 3) identification of genetic risk factors contributing to their variability, and 4) non-invasive measurement of urine biomarkers for oxidative stress. Note: with the NHLBI initial submission, items # 3 and 4 above will no longer be evaluated.

Secondary outcomes

To determine how stable/variable these findings are over time

Time frame: 2-4 years

Skin and vascular elasticity analysis may be repeated in willing individuals at later dates (at least 2 years apart) to assess changes in the measurements with time.

Sponsors and collaborators

Lead sponsor

National Heart, Lung, and Blood Institute (NHLBI)

Nih

Registry information

Official study title

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

Important dates

Study start: 2017
Primary completion: 2017
Study completion: 2017
First posted: Feb 26, 2016
Registry last updated: Jul 2, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed