Impact of Elastin Mediated Vascular Stiffness on End Organs
NCT ID: NCT02840448
Last Updated: 2025-12-19
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
218 participants
OBSERVATIONAL
2016-12-02
2032-02-25
Brief Summary
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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.
Detailed Description
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Following consent, the investigators will work with the subjects and their caregivers to determine which tests are most appropriate for the patient based on their age/capabilities and preferences and may include:
* testing of cognitive and neurobehavioral abilities as well as measures of general health and well being
* undergo non-invasive measurements of vascular stiffness
* undergo brain imaging by MRI
* undergo echocardiogram
* undergo ECG
* undergo 24-hour ambulatory electrocardiogram monitor
* undergo ultrasound imaging and flow studies of various vascular beds and tissues
* undergo CT angiogram of relevant vessels
* undergo non-invasive tissue oxygenation and endothelial functional assessment with near infrared spectroscopy (NIRS) of the limbs and/or head/brain (fNIRS)
* perform a 6 minute walk test
* perform pulmonary function tests
* receive an eye exam and Optical coherence tomography (OCT)
* give blood/urine for relevant laboratories
* evaluate biomechanical properties of skin
* evaluate baseline fitness information using a fitness tracker
* complete medica photography evaluating relevant features of the condition
* receive a dental examination and dental photography
Visits may be conducted in person at the Clinical Center, by telehealth, or with a combination of in person and telehealth, at the discretion of the study team. All telehealth activities will be performed according to HRPP Policy 303 and only testing that can be performed at home (e.g. clinical consultations, neurobehavioral testing, fitness tracking, ambulatory ecg monitoring, and photography) will be selected. The other tests require the individual to be on site at the CC.
Consequently, some participants may have certain consultations at home and other testing on site to limit time in the CC
Additionally, the study will request permission to review the participant's medical records to obtain additional information about general and cardiovascular health. For individuals with supravalvular aortic stenosis (SVAS) or Williams syndrome (WS), the clinical report confirming the individuals diagnosis will be reviewed when available.
Conditions
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Keywords
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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Case
Subjects with WS/SVAS/WS gene region variation
No interventions assigned to this group
Controls
Healthy volunteers
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
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
* not have clinical features or genetic profile suggestive of WS, SVAS or an SVAS-like condition. No genetic testing will be performed in this research study.
* have a parent/guardian available to provide consent and assist in answering medical questions if they are a minor (not applicable to adults)
3 Years
85 Years
ALL
Yes
Sponsors
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National Heart, Lung, and Blood Institute (NHLBI)
NIH
Responsible Party
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Principal Investigators
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Manfred Boehm, M.D.
Role: PRINCIPAL_INVESTIGATOR
National Heart, Lung, and Blood Institute (NHLBI)
Locations
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National Institutes of Health Clinical Center
Bethesda, Maryland, United States
Washington University School of medicine
St Louis, Missouri, United States
Countries
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Central Contacts
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Facility Contacts
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For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
Role: primary
References
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Pober BR. Williams-Beuren syndrome. N Engl J Med. 2010 Jan 21;362(3):239-52. doi: 10.1056/NEJMra0903074. No abstract available.
Franklin SS. Beyond blood pressure: Arterial stiffness as a new biomarker of cardiovascular disease. J Am Soc Hypertens. 2008 May-Jun;2(3):140-51. doi: 10.1016/j.jash.2007.09.002.
Gorelick PB, Scuteri A, Black SE, Decarli C, Greenberg SM, Iadecola C, Launer LJ, Laurent S, Lopez OL, Nyenhuis D, Petersen RC, Schneider JA, Tzourio C, Arnett DK, Bennett DA, Chui HC, Higashida RT, Lindquist R, Nilsson PM, Roman GC, Sellke FW, Seshadri S; American Heart Association Stroke Council, Council on Epidemiology and Prevention, Council on Cardiovascular Nursing, Council on Cardiovascular Radiology and Intervention, and Council on Cardiovascular Surgery and Anesthesia. Vascular contributions to cognitive impairment and dementia: a statement for healthcare professionals from the american heart association/american stroke association. Stroke. 2011 Sep;42(9):2672-713. doi: 10.1161/STR.0b013e3182299496. Epub 2011 Jul 21.
Levin MD, Cathey BM, Smith K, Osgood S, Raja N, Fu YP, Kozel BA. Heart Rate Variability Analysis May Identify Individuals With Williams-Beuren Syndrome at Risk of Sudden Death. JACC Clin Electrophysiol. 2023 Mar;9(3):359-370. doi: 10.1016/j.jacep.2022.10.010. Epub 2022 Nov 30.
Related Links
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NIH Clinical Center Detailed Web Page
Other Identifiers
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16-H-0144
Identifier Type: -
Identifier Source: secondary_id
160144
Identifier Type: -
Identifier Source: org_study_id