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

NCT02692846 | Completed

• 2 other identifiers: 16006316-H-0063
• Study Type: observational
• Target: 43
• Locations: 1 country
• Sites: 1

Brief 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

Williams Syndrome; Cardiovascular Disease; Multisystem Developmental Disorder; Elastin Gene Deletion; Hypertension

Keywords

CONNECTIVE TISSUE DISEASES; Cardiovascular Disease; Elastin Gene Mutation; Multisystem Developmental Disorder; Natural History

Outcome Measures

Primary Outcomes (1)

• 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

  1\) 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.

  2-4

Secondary Outcomes (1)

• To determine how stable/variable these findings are over time

  2-4 years

Study Arms (3)

Control participants with connective tissue disease

Not have a diagnosis of WS. Have a clinical or molecular diagnosis of connective tissue disease, between the ages of 1 and 70 years old

Unaffected Control participants

Not have a diagnosis of WS or other connective tissue disease, between the ages of 1 and 70 years old

WS participants

Have diagnosis of WS, between the ages of 5 and 70 years old. Be able to tolerate blood pressure measurements.

Eligibility Criteria

• Age: 1 Year - 70 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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.

You may not qualify if:

• 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:

Sponsors & Collaborators

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

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Publications (2)

• Pober BR. Williams-Beuren syndrome. N Engl J Med. 2010 Jan 21;362(3):239-52. doi: 10.1056/NEJMra0903074. No abstract available.

  PMID: 20089974 BACKGROUND

• Urban Z, Peyrol S, Plauchu H, Zabot MT, Lebwohl M, Schilling K, Green M, Boyd CD, Csiszar K. Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotype. Pediatr Dermatol. 2000 Jan-Feb;17(1):12-20. doi: 10.1046/j.1525-1470.2000.01703.x.

  PMID: 10720981 BACKGROUND

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Williams Syndrome; Cardiovascular Diseases; Hypertension; Connective Tissue Diseases

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Aortic Stenosis, Supravalvular; Aortic Valve Stenosis; Aortic Valve Disease; Heart Valve Diseases; Heart Diseases; Chromosome Disorders; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Vascular Diseases; Skin and Connective Tissue Diseases

Study Officials

• Manfred Boehm, M.D.

  National Heart, Lung, and Blood Institute (NHLBI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 25, 2016
• First Posted: February 26, 2016
• Study Start: March 3, 2017
• Primary Completion: December 15, 2017
• Study Completion: December 15, 2017
• Last Updated: March 17, 2026

Record last verified: 2026-03-13

Locations

US (1)