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Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS)

Elastin (ELN) and Arterial Stiffness

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Researchers at the National Institutes of Health seek patients with Williams Syndrome or Supravalvular Aortic Stenosis (SVAS) to join a research study. Researchers want to see how blood vessel elasticity and stiffness affect the heart, gut, kidneys, and the brain in people with Williams Syndrome.

Eligible Participants:

  • Are 3 to 85 years old
  • Have been diagnosed with Williams syndrome or SVAS (ELN gene mutation) by a physician
  • Individuals with WS or children with ELN gene mutations must have parent/guardian for consent

Study participants:

  • Will have their medical records reviewed and receive a physical exam
  • Every year, participants will have imaging tests and measurements of blood vessel function over the course of several days
  • Have the option of yearly study visits for up to 10 years
  • Receive study-related tests provided at no cost
  • May receive compensation and travel assistance

Location: The NIH Clinical Center, America's Research Hospital, is located on the Metro red line (Medical Center) in Bethesda, MD.

For more information, contact:
The Office of Patient Recruitment
1-800-411-1222
(TTY users dial 7-1-1)
Se habla español
ccopr@nih.gov

Or go online:
https://go.usa.gov/xyKp8
Refer to study 16-H-0144

Department of Health and Human Services
National Institutes of Health Clinical Center
National Heart, Lung and Blood Institute