Clinical trialCLINICALTRIALS4 days ago
Trial Now Recruiting: Williams Syndrome (WS) and Supravalvar Aortic Stenosis (SVAS) DNA and Tissue Bank (NCT02706639)
Williams syndrome is a rare genetic condition that affects about 1 in every 8,000 to 12,000 people. It happens when a person is missing a small section of DNA on chromosome 7, which includes the gene that makes elastin (a protein that helps blood vessels stretch). This causes distinctive facial features and heart and blood vessel problems. Researchers are now recruiting 1,099 people with Williams syndrome or a related heart condition called supravalvular aortic stenosis to donate DNA and tissue samples to help scientists better understand these conditions.
WHY IT MATTERSThis actively recruiting biobank offers Williams syndrome and SVAS patients a direct way to contribute DNA and tissue samples to NHLBI-sponsored research that could accelerate understanding of the genetic causes and lead to new treatments.