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

Office of Patient Recruitment

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
Refer to study # 16-H-0144

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