Impact of Elastin Mediated Vascular Stiffness on End Organs
| Status: | Recruiting |
|---|---|
| Conditions: | Other Indications, Peripheral Vascular Disease, Cardiology |
| Therapuetic Areas: | Cardiology / Vascular Diseases, Other |
| Healthy: | No |
| Age Range: | 3 - 85 |
| Updated: | 1/11/2019 |
| Start Date: | July 19, 2016 |
| End Date: | March 16, 2021 |
| Contact: | Sharon Osgood, R.N. |
| Email: | sharon.osgood@nih.gov |
| Phone: | (301) 827-3237 |
Background:
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.
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.
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:
- formal testing of cognitive and neurobehavioral abilities as well as measures of general
health and well bein
- 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)
- 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
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.
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:
- formal testing of cognitive and neurobehavioral abilities as well as measures of general
health and well bein
- 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)
- 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
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.
- INCLUSION CRITERIA:
We will recruit individuals with WS or SVAS and demographically similar control
(unaffected) participants.
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
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).
- 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 participating in the study as part of control group must:
- be between the ages of 5 and 85
- Not have clinical features or genetic profile suggestive of WS, SVAS or an SVAS-like
condition
- have a parent/guardian available to provide consent and assist in answering medical
questions if they are a minor (not applicable to adults)
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
301-496-2563
Phone: 800-411-1222
National Institutes of Health Clinical Center The National Institutes of Health (NIH) Clinical Center in...
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