Impact of Elastin Mediated Vascular Stiffness on End Organs

Launched by NATIONAL HEART, LUNG, AND BLOOD INSTITUTE (NHLBI) · Jul 19, 2016

Keywords

ClinConnect Summary

This clinical trial is studying how the stiffness of blood vessels in people with Williams Syndrome (WS) and supravalvular aortic stenosis (SVAS) affects different organs in the body, such as the heart, gut, kidneys, and brain. Researchers want to understand how these blood vessel differences might impact overall health. The trial is open to individuals aged 3 to 85 who have WS, SVAS, or other related conditions, as well as healthy volunteers of the same age range.

Participants in the study can expect to visit the National Institutes of Health (NIH) once a year for up to 10 years. During these visits, participants will have a physical exam, share their medical history, and undergo various tests. These tests may include imaging studies, blood vessel function assessments, and cognitive ability evaluations. If the participant is a child, their parent or guardian will help with consent and answering questions. This study aims to gather important information that could help improve care for people with these conditions.

Gender

ALL

Eligibility criteria

• * INCLUSION CRITERIA:
• • We will recruit individuals with people with WS, SVAS or other WS region variation conditions (cases) and demographically similar control (unaffected) participants.
• Children or adults with WS must:
• • be between the ages of 3 and 85
• • have a presumed or confirmed diagnosis of WS (genetic testing is not performed in this research study).
• • have a parent/guardian available to provide consent and assist in answering medical questions
• • not be pregnant
• Children or adults with SVAS must:
• • be between the ages of 3 and 85
• • have clinical features suggestive of SVAS or an SVAS-like condition OR have no clinical features of SVAS or an SVAS-like condition but have genetic testing results that imply affected status (SVAS has decreased penetrance). No genetic testing will be done as part of this protocol.
• • have a parent/guardian available to provide consent and assist in answering medical questions if they are a minor (not applicable to adults)
• Children or adults with WS region gene changes:
• • be between the ages of 3 and 85
• • have clinical or research genetic testing that reports gene variation in a non-ELN gene in the WS region.
• • have a parent/guardian available to provide consent and assist in answering medical questions if they are a minor or if they have cognitive impairment that would impede their ability to consent on their own behalf.
• Children or adults participating in the study as part of control group must:
• • be between the ages of 3 and 85
• • not have clinical features or genetic profile suggestive of WS, SVAS or an SVAS-like condition. No genetic testing will be performed in this research study.
• • have a parent/guardian available to provide consent and assist in answering medical questions if they are a minor (not applicable to adults)