Examining how blood vessel stiffness affects organs in people with Williams Syndrome and supravalvular aortic stenosis
Impact of Elastin Mediated Vascular Stiffness on End Organs
This study looks at how stiff blood vessels affect the health of organs in people with Williams Syndrome and supravalvular aortic stenosis, while also including healthy volunteers to compare results.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 218 (estimated) |
| Ages | 3 Years to 85 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 2 sites (Bethesda, Maryland and 1 other locations) |
| Trial ID | NCT02840448 on ClinicalTrials.gov |
What this trial studies
This observational study investigates the impact of vascular stiffness on various organs in individuals with Williams Syndrome (WS) and supravalvular aortic stenosis (SVAS). Participants aged 3 to 85 will undergo a series of assessments over a period of up to 10 years, including cognitive testing, brain imaging, echocardiograms, and non-invasive vascular measurements. The goal is to understand how differences in blood vessel elasticity may influence health outcomes in these populations. The study will also include healthy volunteers for comparison purposes.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 3 to 85 with a confirmed diagnosis of Williams Syndrome or supravalvular aortic stenosis.
Not a fit: Patients who are pregnant or do not have a diagnosis of WS or SVAS may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of cardiovascular and cognitive health in patients with Williams Syndrome and SVAS.
How similar studies have performed: While studies on vascular stiffness exist, this specific approach focusing on early-onset vascular stiffness in WS and SVAS is relatively novel.
Eligibility criteria
Show full inclusion / exclusion 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)
Where this trial is running
Bethesda, Maryland and 1 other locations
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
- Washington University School of medicine — Saint Louis, Missouri, United States (Completed)
Study contacts
- Principal investigator: Manfred Boehm, M.D. — National Heart, Lung, and Blood Institute (NHLBI)
- Study coordinator: Sharon Osgood, R.N.
- Email: sharon.osgood@nih.gov
- Phone: (301) 827-3237
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.