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Trial record 4 of 13 for:    "Supravalvular Aortic Stenosis"

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 : May 30, 2019
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) )

Brief Summary:

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.

Condition or disease
Williams Syndrome Supravalvular Aortic Stenosis Cardiovascular Disease

Detailed Description:

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)
  • 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

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.


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Study Type : Observational
Estimated Enrollment : 200 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Impact of Elastin Mediated Vascular Stiffness on End Organs
Actual Study Start Date : December 6, 2016
Estimated Primary Completion Date : March 16, 2021
Estimated Study Completion Date : March 16, 2021


Group/Cohort
Case
Subjects with WS/SVAS
Controls
Healthy Volunteers



Primary Outcome Measures :
  1. By testing both WS and SVAS subgroups, we can investigate both the effect of elastin insufficiency mediated vascular disease on end organs such as the heart, gut, kidneys and brain and look for a synergistic effect of the larger WS gene deletion... [ Time Frame: Ongoing ]
    Pilot studies aimed at identifying differences between the WS/SVAS population and controls.



Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   3 Years to 85 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Primary clinical along with matched healthy controls
Criteria
  • 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. 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)

Information from the National Library of Medicine

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


Contacts
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Contact: Sharon Osgood, R.N. (301) 827-3237 sharon.osgood@nih.gov

Locations
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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    prpl@cc.nih.gov   
Sponsors and Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
Investigators
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Principal Investigator: Beth A Kozel, M.D. National Heart, Lung, and Blood Institute (NHLBI)

Additional Information:
Publications:
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Responsible Party: National Heart, Lung, and Blood Institute (NHLBI)
ClinicalTrials.gov Identifier: NCT02840448     History of Changes
Other Study ID Numbers: 160144
16-H-0144
First Posted: July 21, 2016    Key Record Dates
Last Update Posted: May 30, 2019
Last Verified: May 23, 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) ):
ClinicalTrials.gov Identifier:
Williams Syndrome
Blood Flow
Brain
Arterial Stiffness

Additional relevant MeSH terms:
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Cardiovascular Diseases
Aortic Valve Stenosis
Williams Syndrome
Aortic Stenosis, Supravalvular
Heart Valve Diseases
Heart Diseases
Ventricular Outflow Obstruction
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Chromosome Disorders
Congenital Abnormalities
Genetic Diseases, Inborn