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Protocol Details

Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue Bank

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




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


Population Exclusion(s)

Non-English Speaking


Biospecimen Procurement;
Laboratory Research Specimens;
Sample Collection;
Rare Diseases;
Natural History

Recruitment Keyword(s)



Williams Syndrome;
Supravalvular Aortic Stenosis;
Cardiovascular Disease

Investigational Drug(s)


Investigational Device(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.


To identify the DNA differences or environmental changes that change the severity of WS and SVAS from person to person.


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.


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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We will recruit individuals with WS, SVAS or SVAS-like conditions and individuals with variation in WS genes other than elastin..

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 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 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.

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Not Provided

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Principal Investigator

Referral Contact

For more information:

Beth A. Kozel, M.D.
National Heart, Lung and Blood Institute (NHLBI)
(301) 451-2888

Joy Lynne V. Freeman
National Heart, Lung and Blood Institute (NHLBI)
National Institutes of Health
Building 10
Room 5-3140
10 Center Drive
Bethesda, Maryland 20892
(301) 480-7632

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1

Clinical Trials Number:


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