This study is currently recruiting participants.
Number
16-H-0074
Sponsoring Institute
National Heart, Lung and Blood Institute (NHLBI)
Recruitment Detail
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: N/A Max Age: 85 Years
Referral Letter Required
No
Population Exclusion(s)
Non-English Speaking
Keywords
Biospecimen Procurement; Laboratory Research Specimens; Sample Collection; Rare Diseases; Natural History
Recruitment Keyword(s)
None
Condition(s)
Williams Syndrome; Supravalvular Aortic Stenosis; Cardiovascular Disease
Investigational Drug(s)
Investigational Device(s)
Intervention(s)
Supporting Site
National Heart, Lung, and Blood Institute
DNA tells the body how to grow and function. Williams-Beuren syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) are rare diseases caused by changes in a part of a person s DNA. Symptoms of both conditions include vascular problems including narrow blood vessels and supravalvular aortic stenosis (SVAS) or supravalvular pulmonary stenosis. Individuals with WS may also have developmental challenges and personality differences. Researchers at the NIH want to find out why only some people with WS and SVAS have severe symptoms. They want to collect samples and data to see what DNA or environmental changes affect the severity of the disease.
Objective:
To identify the DNA differences or environmental changes that change the severity of WS and SVAS from person to person.
Eligibility:
People ages 0-85 with either WS, SVAS, and/or an SVAS-like condition
Children and people with WS must have a parent or legal guardian to consent or help answer questions.
Design:
Participants will be screened with questions and medical history.
Participants will have a 60-minute visit. They will provide blood or saliva samples.
They or their parent/guardian will:
Answer questions about how WS and SVAS affect them.
Sign a form releasing their medical records for the study.
If participant s regular doctor recommends surgery, researchers will ask the surgeon for skin or tissue samples that they might otherwise discard. These will be used to create stem cells to study in a lab.
For up to 20 years, participants will have annual questionnaires by phone, email, or mail about their WS or SVAS.
Participants may also be contacted if:
They need to provide a new blood or saliva sample.
Researchers need any other data.
There is a follow-up study.
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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.
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:
-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):
-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.
Principal Investigator
Referral Contact
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