WS-SAVE Study (Williams Syndrome Skin and Vessel Elasticity Study)
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|ClinicalTrials.gov Identifier: NCT02692846|
Recruitment Status : Completed
First Posted : February 26, 2016
Last Update Posted : April 11, 2019
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.
To learn more about the skin and blood vessels in individuals with WS and how those tissues change over time.
People ages 5-70 with WS.
People ages 1-70 with a medical condition that affects connective tissue.
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).
|Condition or disease|
|Williams Syndrome Cardiovascular Disease Multisystem Developmental Disorder Elastin Gene Deletion Hypertension|
Williams syndrome (WS) is a multisystem developmental disorder caused by deletion of 26-28 genes, including the elastin gene, located on chromosome 7q11.23. Cardiovascular disease in WS, including obstructive vascular disease and hypertension, and relatively mild skin changes are caused by the elastin gene deletion. Even though all WS subjects are missing one copy of this gene, the expression of cardiovascular problems is highly variable, ranging from no significant disease to severe generalized arteriopathy leading to infant death. The causes of vascular variability are currently unknown, and male gender is the only disease modifier described to date. Clinically, skin is described as abnormally soft, smooth and easily mobilized , while ultrastructurally the elastic fibers are abnormal with reduced amorphous elastin.
The overall objective of this study is to establish quantitative norms that can be used to determine the severity of vascular disease in elastin insufficiency and then to identify risk factors that contribute to that variability. It is also important to determine how stable/variable these findings are over time.
|Study Type :||Observational|
|Actual Enrollment :||43 participants|
|Official Title:||Williams Syndrome Skin and Vascular Elasticity Study (WS-SAVE Study)|
|Study Start Date :||February 25, 2016|
|Actual Primary Completion Date :||December 15, 2017|
|Actual Study Completion Date :||December 15, 2017|
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
Have diagnosis of WS, between the ages of 5 and 70 years old. Be able to tolerate blood pressure measurements.
- 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 [ Time Frame: 2-4 ]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.
- To determine how stable/variable these findings are over time [ Time Frame: 2-4 years ]Skin and vascular elasticity analysis may be repeated in willing individuals at later dates (at least 2 years apart) to assess changes in the measurements with time.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02692846
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Beth A Kozel, M.D.||National Heart, Lung, and Blood Institute (NHLBI)|