Impact of Elastin Mediated Vascular Stiffness on End Organs
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|ClinicalTrials.gov Identifier: NCT02840448|
Recruitment Status : Recruiting
First Posted : July 21, 2016
Last Update Posted : January 14, 2022
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.
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.
People ages 3-85 who have WS or SVAS
Healthy volunteers ages 3-85
- 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.
|Condition or disease|
|Williams Syndrome Supravalvular Aortic Stenosis Cardiovascular Disease|
Elasticity in the aorta buffers the body from damage due to pulsatile blood flow. Data from humans and mice show that with increasing age, vessels lose elasticity and become stiff. Vascular stiffness is associated with progressive cognitive impairment and dementia in aging adults, but little is known about the effects of early-onset/congenital vascular stiffness. Similarly, elastin-mediated arteriopathy in the form of stenosis has the potential to impact additional end organs such as the heart, lungs, gut, skeletal muscle and kidney causing feeding and exercise intolerance, as well hypertension. This study evaluates the impact of elastin arteriopathy and vascular stiffness on end organs.
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.
|Study Type :||Observational|
|Estimated Enrollment :||218 participants|
|Official Title:||Impact of Elastin Mediated Vascular Stiffness on End Organs|
|Actual Study Start Date :||December 6, 2016|
|Estimated Primary Completion Date :||December 7, 2031|
|Estimated Study Completion Date :||December 7, 2031|
Subjects with WS/SVAS/WS gene region variation
- 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... [ Time Frame: ongoing ]Pilot studies aimed at identifying differences between the WS/SVAS/WS gene region variation population and controls.
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): NCT02840448
|Contact: Sharon Osgood, R.N.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||Beth A Kozel, M.D.||National Heart, Lung, and Blood Institute (NHLBI)|