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Williams Syndrome (WS) and Supravalvar Aortic Stenosis (SVAS) DNA and Tissue Bank
NCT02706639 · View on ClinicalTrials.gov ↗
Study 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 variability; * Endocrine abnormalities including hypercalcemia, hypothyroidism, and early puberty; * Metabolic concerns with colic and failure to gain weight in infancy and obesity and early glucose intolerance in adulthood; * Characteristic neurocognitive profile comprised of cognitive impairment, high sociality with concurrent social awkwardness, difficulty with visual-spatial tasks, relative strengths in speech, and lack of social fear; * Anxiety and chronic pain in adulthood Most individuals with WS carry the same basic deletion on Chromosome 7q11.23. However, each feature may present as mild or more severe in any given individual. Variation in the presence and severity of these vascular phenotypes remains unexplained. The supravalvar aortic stenosis (SVAS) phenotype is caused by haploinsufficiency for elastin. This can come about due to the WS deletion (as above) or due to heterozygous variation in elastin (ELN) gene itself in this region. When this protein is reduced, connective tissues lose its strength, flexibility, and overall support. When this happens in the aorta, it may cause vascular narrowing that presents as shortness of breath, chest pain, and even heart failure if left untreated. Narrowing also occurs in other vessels especially the pulmonary and renal arteries. Changes in non-vascular elastic tissues such as the skin and lungs also occur. As in WBS, phenotypic variation also occurs in people with ELN gene changes--This variability remains unexplained despit
Conditions Studied
Study Locations (3)
Maryland
- National Institutes of Health Clinical Center — Bethesda
Missouri
- Washington University School of Medicine — St Louis
Ohio
- Nationwide Children's Hospital — Columbus
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 1,099 participants |
| Start Date | 2016-05-11 |
| Est. Completion | 2040-09-25 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT02706639
The ClinicalTrials.gov registry entry for NCT02706639 describes a study currently listed as recruiting. It is categorized as an unspecified phase, which is the standard way researchers label where a study sits along the investigational pathway from early safety work through later efficacy and post-marketing evaluation. The registered enrollment target is 1,099 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is National Heart, Lung, and Blood Institute (NHLBI), which has 381 total studies on file at ClinicalTrials.gov, and sponsors are the parties responsible for study design, oversight, and regulatory filings.
The record links to 3 conditions, with Cardiovascular Disease appearing as the primary indexed condition, and to 0 interventions. Interventions can include drugs, devices, procedures, behavioral programs, or observational arms, and each is tracked as a separate registry field so that downstream queries can filter accurately. When a trial lists multiple interventions, it usually reflects a multi-arm design or a comparison protocol rather than a single treatment being tested in isolation. The brief summary published in the registry is the clearest source of protocol intent and should be read before drawing conclusions from any sidebar tags.
Geographic footprint matters for practical reasons: NCT02706639 reports 3 study locations spanning 3 distinct geographic areas — top geographies include Maryland, Missouri, Ohio. A larger site network tends to correlate with broader recruitment capacity, but it does not imply anything about study quality, and site-level enrollment status can diverge from the overall registry status shown above. Every data point on this page comes from the public ClinicalTrials.gov dataset and is reproduced here for reference only; it is not a medical recommendation, an endorsement of the sponsor, or an invitation to enroll. Verify current status, eligibility criteria, and contact details directly at ClinicalTrials.gov, and discuss any participation decision with your own healthcare provider.
Frequently Asked Questions
What is clinical trial NCT02706639 about?
NCT02706639 is a clinical study titled "Williams Syndrome (WS) and Supravalvar Aortic Stenosis (SVAS) DNA and Tissue Bank". 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 fe...
What is the current status of trial NCT02706639?
This trial is currently recruiting. The enrollment target is 1,099 participants. The study started on 2016-05-11. Estimated completion is 2040-09-25.
What conditions does trial NCT02706639 study?
This clinical trial studies the following conditions: Cardiovascular Disease, Williams Syndrome, Supravalvular Aortic Stenosis. These conditions were identified from the trial registry and reflect the primary focus areas of the research.
Who is sponsoring clinical trial NCT02706639?
This trial is sponsored by National Heart, Lung, and Blood Institute (NHLBI), which has 381 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.
Where is trial NCT02706639 being conducted?
This trial has 3 study locations across Maryland, Missouri, Ohio. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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