CompletedNot Applicable

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

United States43 participantsStarted 2017-03-03

Plain-language 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).

Who can participate

Age range1 Year – 70 Years

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

* 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.

What they're measuring

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

Timeframe: 2-4

Trial details

NCT IDNCT02692846

SponsorNational Heart, Lung, and Blood Institute (NHLBI)

Sponsor typeNIH

Study typeOBSERVATIONAL

Primary completion2017-12-15