- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT02692846
WS-SAVE Study (Williams Syndrome Skin and Vessel Elasticity Study)
Williams Syndrome Skin and Vascular Elasticity Study (WS-SAVE Study)
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).
...
Study Overview
Status
Detailed Description
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
Enrollment (Actual)
Contacts and Locations
Study Locations
-
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Maryland
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Bethesda, Maryland, United States, 20892
- National Institutes of Health Clinical Center
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-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
- 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.
Study Plan
How is the study designed?
Design Details
- Observational Models: Case-Control
- Time Perspectives: Prospective
Cohorts and Interventions
Group / Cohort |
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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
|
WS participants
Have diagnosis of WS, between the ages of 5 and 70 years old.
Be able to tolerate blood pressure measurements.
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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
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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.
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2-4
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Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
To determine how stable/variable these findings are over time
Time Frame: 2-4 years
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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.
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2-4 years
|
Collaborators and Investigators
Investigators
- Principal Investigator: Manfred Boehm, M.D., National Heart, Lung, and Blood Institute (NHLBI)
Publications and helpful links
General Publications
- Pober BR. Williams-Beuren syndrome. N Engl J Med. 2010 Jan 21;362(3):239-52. doi: 10.1056/NEJMra0903074. No abstract available. Erratum In: N Engl J Med. 2010 Jun 3;362(22):2142.
- Urban Z, Peyrol S, Plauchu H, Zabot MT, Lebwohl M, Schilling K, Green M, Boyd CD, Csiszar K. Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotype. Pediatr Dermatol. 2000 Jan-Feb;17(1):12-20. doi: 10.1046/j.1525-1470.2000.01703.x.
Helpful Links
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimated)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Mental Disorders
- Pathologic Processes
- Heart Diseases
- Nervous System Diseases
- Neurologic Manifestations
- Neurobehavioral Manifestations
- Disease
- Congenital Abnormalities
- Genetic Diseases, Inborn
- Aortic Valve Disease
- Heart Valve Diseases
- Intellectual Disability
- Neurodevelopmental Disorders
- Chromosome Disorders
- Aortic Valve Stenosis
- Aortic Stenosis, Supravalvular
- Cardiovascular Diseases
- Syndrome
- Developmental Disabilities
- Williams Syndrome
Other Study ID Numbers
- 160063
- 16-H-0063
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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