Collection of DNA and tissue samples from individuals with Williams Syndrome and Supravalvar Aortic Stenosis
Williams Syndrome (WS) and Supravalvar Aortic Stenosis (SVAS) DNA and Tissue Bank
This study is collecting DNA and tissue samples from people with Williams Syndrome and Supravalvar Aortic Stenosis, along with their family members, to see how genetics and environment affect these conditions.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1099 (estimated) |
| Ages | 1 Day to 85 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 3 sites (Bethesda, Maryland and 2 other locations) |
| Trial ID | NCT02706639 on ClinicalTrials.gov |
What this trial studies
This study aims to establish a DNA and tissue bank for individuals with Williams Syndrome (WS) and Supravalvar Aortic Stenosis (SVAS) to investigate the genetic and environmental factors influencing these rare conditions. By collecting samples and historical data, researchers will explore the genetic drivers of vascular disease and the natural history of WS and SVAS. The study will include individuals diagnosed with WS, SVAS, or related conditions, as well as unaffected family members for comparison. The collected specimens will be used for ongoing and future research to better understand the variability in disease severity and associated symptoms.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 0 to 85 with a confirmed diagnosis of Williams Syndrome, Supravalvar Aortic Stenosis, or related conditions, as well as their unaffected family members.
Not a fit: Patients without a diagnosis of Williams Syndrome or Supravalvar Aortic Stenosis, or those who do not have family members willing to participate, may not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and management of Williams Syndrome and Supravalvar Aortic Stenosis, ultimately enhancing patient care.
How similar studies have performed: While studies on genetic conditions have shown promise, this specific approach to collecting and analyzing biospecimens for Williams Syndrome and SVAS is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA: We will recruit individuals with WS, SVAS or SVAS-like conditions, individuals with variation in WS genes other than ELN and unaffected family members or unrelated controls Children or adults participating in this study as part of the WS group must: * be between the ages of 0 and 85 * have a presumed or confirmed diagnosis of WS (typical or atypical deletions overlapping the WS region are acceptable, as are clinical diagnoses made by a physician familiar with WS) have a parent/guardian available to provide consent and assist in answering medical questions Children or adults participating in the study as part of the SVAS/SVAS-like group must: * be between the ages of 0 and 85 * have clinical features suggestive of SVAS or an SVAS-like condition OR have no clinical features of SVAS or of an SVAS-like condition but have genetic testing results that imply affected status (SVAS has decreased penetrance). 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 (variation affecting one or more WS region genes): * be between the ages of 0 and 85 * have clinical or research genetic testing that reports gene variation in one or more genes in the WS region (ELN variants alone will be considered in the SVAS category but other changes to the region that include ELN plus other genes may be grouped in this category). 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 serving as unaffected family members or adult unrelated controls must: * family members be between the ages of one month old and 85 years old * unrelated controls be between the ages 18 and 85 years old * not carry a diagnosis of WS, SVAS, an SVAS-like condition or a known (at the time of enrollment) WS gene region variant. * In some cases, an individual may appear to be unaffected, but upon genetic testing may be found to be an asymptomatic carrier for gene variant. If that happens, they will be transferred to the appropriate affected research group. The eligible age range for unaffected family members participating in this study includes all family members from one month onwards. This inclusive approach is undertaken to comprehensively grasp the affected status across all family members, avoiding any form of age-based discrimination. Understanding that certain cases may not exhibit phenotypic indications of affected status at a young age, it becomes crucial to gather early health characteristics of individuals who may initially appear unaffected but later manifest disease findings. Participation in research, as previously noted, has a potential to identify people at risk who were previously thought to be healthy.
Where this trial is running
Bethesda, Maryland and 2 other locations
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
- Washington University School of Medicine — Saint Louis, Missouri, United States (Completed)
- Nationwide Children's Hospital — Columbus, Ohio, United States (Completed)
Study contacts
- Principal investigator: Manfred Boehm, M.D. — National Heart, Lung, and Blood Institute (NHLBI)
- Study coordinator: Joy Lynne V Freeman
- Email: joylynne.freeman@nih.gov
- Phone: (301) 480-7632
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.