WS-SAVE Study (Williams Syndrome Skin and Vessel Elasticity Study) (NCT02692846) | Clinical Trial Compass
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 range
1 Year – 70 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/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.
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.
1Since this study has already been completed, would it be worth asking the researchers or my doctor if any results have been published that could help us better understand why some people with Williams syndrome develop more severe cardiovascular problems than others?
2Given that this study focused on elastin gene deletion as a key factor in both skin and blood vessel stiffness in Williams syndrome, can you explain how my child's specific elastin deletion might be affecting their cardiovascular risk and whether measuring their vessel elasticity or compliance is something we should be doing routinely?
3This study looked at variability in cardiovascular outcomes among people with Williams syndrome — what factors in my child's current profile, like their blood pressure or history of heart narrowing, would place them at higher or lower risk compared to others with the same condition?
4Since hypertension was one of the conditions this study examined, how closely should we be monitoring my child's blood pressure, and are there any warning signs of worsening cardiovascular involvement I should watch for at home?
5Are there any follow-up studies or registries building on this completed research that my child might be eligible to participate in, so we can contribute to learning more about Williams syndrome while also potentially benefiting from closer monitoring?
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
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)