CompletedNot Applicable

Impact of Elastin Mediated Vascular Stiffness on End Organs

United States159 participantsStarted 2016-12-02

Plain-language summary

Background: People with Williams Syndrome (WS) and supravalvular aortic stenosis (SVAS) have less elasticity in their blood vessels. This is called blood vessel stiffness. Blood vessels may have focal narrowings called stenoses or may just be globally more narrow. Objectives: Researchers want to see how blood vessel differences in people with Williams Syndrome and supravalvular aortic stenosis affect organs in the body including the heart, gut, kidneys, and brain. Eligibility: People ages 3-85 who have WS or SVAS Healthy volunteers ages 3-85 Design: * Participants will have yearly visits for up to 10 years. All participants will be offered the same tests. * Participants will give consent for the study team to review their medical records. If the participant is a child or an adult with WS, a parent or guardian will give the consent. * Participants will visit the NIH where they will have a physical exam and medical history. Based on their health history, participants will undergo a series of imaging tests and measures of blood vessel function over the course of 2-4 days. Tests of cognitive abilites will also be performed. Blood will be drawn and an IV may be placed for specific tests.

Who can participate

Age range3 Years – 85 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 CRITERIA: We will recruit individuals with people with WS, SVAS or other WS region variation conditions (cases) and demographically similar control (unaffected) participants. Children or adults with WS must: * be between the ages of 3 and 85 * have a presumed or confirmed diagnosis of WS (genetic testing is not performed in this research study). * have a parent/guardian available to provide consent and assist in answering medical questions * not be pregnant Children or adults with SVAS must: * be between the ages of 3 and 85 * have clinical features suggestive of SVAS or an SVAS-like condition OR have no clinical features of SVAS or an SVAS-like condition but have genetic testing results that imply affected status (SVAS has decreased penetrance). No genetic testing will be done as part of this protocol. * have a parent/guardian available to provide consent and assist in answering medical questions if they are a minor (not applicable to adults) Children or adults with WS region gene changes: * be between the ages of 3 and 85 * have clinical or research genetic testing that reports gene variation in a non-ELN gene in the WS region. * have a parent/guardian available to provide consent and assist in answering medical questions if they are a minor or if they have cognitive impairment that would impede their ability to consent on their own behalf. Children or adults participating in the study as part of control group must: * be between the ages of 3 and 85 * n…

What they're measuring

By testing both WS and SVAS and WS gene region variation subgroups, we can investigate both the effect of elastin insufficiency mediated vascular disease on end organ function and look for a synergistic effect of the larger gene deletion on elas...

Timeframe: ongoing

Trial details

NCT IDNCT02840448

SponsorNational Heart, Lung, and Blood Institute (NHLBI)

Sponsor typeNIH

Study typeOBSERVATIONAL

Primary completion2024-04-06