RECRUITING

Impact of Elastin Mediated Vascular Stiffness on End Organs

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Conditions

Williams SyndromeSupravalvular Aortic StenosisCardiovascular DiseaseBlood FlowBrainArterial StiffnessNatural HistoryVariation in WS Genes

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

Impact of Elastin Mediated Vascular Stiffness on End Organs

Quick Facts

Study Start:2016-12-02
Study Completion:2032-02-25
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT02840448

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:3 Years to 85 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:Yes
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * be between the ages of 3 and 85
  2. * have a presumed or confirmed diagnosis of WS (genetic testing is not performed in this research study).
  3. * have a parent/guardian available to provide consent and assist in answering medical questions
  4. * not be pregnant
  5. * be between the ages of 3 and 85
  6. * 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.
  7. * have a parent/guardian available to provide consent and assist in answering medical questions if they are a minor (not applicable to adults)
  8. * be between the ages of 3 and 85
  9. * have clinical or research genetic testing that reports gene variation in a non-ELN gene in the WS region.
  10. * 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.
  11. * be between the ages of 3 and 85
  12. * 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.
  13. * have a parent/guardian available to provide consent and assist in answering medical questions if they are a minor (not applicable to adults)
  1. Pregnancy or breastfeeding
  2. Severe psychiatric disorders
  3. Active substance abuse
  4. Unstable medical conditions
  5. Inability to comply with study requirements

Contacts and Locations

Study Contact

Sharon Osgood, R.N.
CONTACT
(301) 827-3237
sharon.osgood@nih.gov
Manfred Boehm, M.D.
CONTACT
(301) 435-7211
boehmm@nhlbi.nih.gov

Principal Investigator

Manfred Boehm, M.D.
PRINCIPAL_INVESTIGATOR
National Heart, Lung, and Blood Institute (NHLBI)

Study Locations (Sites)

National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
United States
Washington University School of medicine
Saint Louis, Missouri, 63110-1093
United States

Collaborators and Investigators

Sponsor: National Heart, Lung, and Blood Institute (NHLBI)

  • Manfred Boehm, M.D., PRINCIPAL_INVESTIGATOR, National Heart, Lung, and Blood Institute (NHLBI)

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2016-12-02
Study Completion Date2032-02-25

Study Record Updates

Study Start Date2016-12-02
Study Completion Date2032-02-25

Terms related to this study

Keywords Provided by Researchers

  • Williams Syndrome
  • Blood Flow
  • Brain
  • Arterial Stiffness
  • Natural History
  • Variation in WS Genes

Additional Relevant MeSH Terms

  • Williams Syndrome
  • Supravalvular Aortic Stenosis
  • Cardiovascular Disease