Trial Now Recruiting: Williams Syndrome (WS) and Supravalvar Aortic Stenosis (SVAS) DNA and Tissue Bank (NCT02706639)
WHY IT MATTERS
This 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.
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.
NCT ID: NCT02706639 Status: RECRUITING Conditions: Williams Syndrome, Supravalvular Aortic Stenosis, Cardiovascular Disease Enrollment: 1099 Sponsor: National Heart, Lung, and Blood Institute (NHLBI) Summary: Williams syndrome is a rare genetic disorder occurring in 1:8000-12,000 individuals. It is caused by the deletion of 25-27 coding genes, including elastin (ELN) on the 7th human chromosome. Haploinsufficiency for these genes leads to the features of the condition, including: * Distinctive facial features; * Characteristic vascular problems including hypertension, focal vascular stenosis, (when present in the aorta this is referred to as SVAS), vascular stiffness and differences in heart rate va
YOU CAN ACT ON THIS
If you or your child has Williams syndrome or supravalvular aortic stenosis, you can contact the study team now to learn if you're eligible to participate and donate samples.