Williams Syndrome and Supravalvar Aortic Stenosis – Research Studies at the National Institutes of Health
National Heart, Lung, and Blood researchers need volunteers with Williams Syndrome (WS), supravalvar aortic stenosis (SVAS) and those with changes in the elastin (ELN) gene for clinical studies to learn more about the WS/SVAS/ELN and how it impacts the body’s functions and organs. Healthy volunteers are also needed. Our WS/SVAS/ELN gene studies focus on:
- Natural history of blood vessel disease
- How to minimize the risk of sudden death in this condition
- Blood vessel disease and aging
- Genetic changes and blood vessel disease severity
- Impact of blood vessel changes on development and other body systems
You can participate in our WS/SVAS studies at home or by coming to the NIH.
To participate, study participants:
- Must carry a diagnosis of WS or SVAS or have a gene test with an ELN gene change.
- Must have a parent/guardian who can provide consent if the participant has WS or is a child. If the family opts for studies that require visits to the NIH, the caregiver must attend with the participant. The participant and their parent/guardian will receive travel assistance.
- May receive copies of medical results through the NIH patient portal
- Will receive study-procedures at no cost
- May receive compensation
Location: Some studies take place at community events and others are at the NIH Clinical Center. Still others can be completed at the participant’s home. The NIH Clinical Center, America’s research hospital, is located on the Metro red line (Medical Center stop) in Bethesda, Maryland.
For more information, contact the Office of Patient Recruitment at 1-866-444-1132; TTY: 1-866-411-1010. Se habla español. For detailed protocol information, please see the following links and reference study numbers 16-H-0074, 16-H-0063 and 16-H-0144.