Clinical Trial: Impact of Elastin Mediated Vascular Stiffness on End Organs

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational



Official Title: Impact of Elastin Mediated Vascular Stiffness on End Organs

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 5-85 who have WS or SVAS

Healthy volunteers ages 5-85

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.