Impact of Elastin Mediated Vascular Stiffness on End Organs (NCT02840448) | Clinical Trial Compass
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 range
3 Years – 85 Years
Sex
ALL
See this in plain English?
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…
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
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)