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

Brief Title

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

Official Title

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

Brief Summary

      Background:

      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.
    

Detailed Description

      Our goal with the Williams syndrome (WS) and Supravalvular Aortic Stenosis (SVAS),
      deoxyribonucleic acid (DNA) and Tissue Bank is to collect enough samples from individuals
      with this rare condition to ask questions about the genes that cause the many WS and SVAS
      related phenotypes, and to determine the genetic and environmental changes that modify the
      severity of disease from person to person. In addition, we would like to learn more about the
      natural history of these conditions and if there are environmental or genetic signatures that
      are associated with symptom presence.

      The protocol detailed here will provide for the collection of historical information,
      laboratory and imaging data, DNA and tissue to perform these studies now and in the future.
      Because technology changes rapidly and because this is a rare condition, our goal is to
      generate a collection that will be available for analysis for many years.

      In addition to DNA and tissue collection proposed, we would like to begin to use the
      specimens collected here to continue to ask questions about modifiers of vascular disease
      severity as well as effects on other organ systems in WS and SVAS.
    


Study Type

Observational


Primary Outcome

The overall objective of this study is to collect historical information and to bank DNA, cells, and tissue from individuals with Williamssyndrome and SVAS to facilitate future research into the many phenotypes seen in these individuals.

Secondary Outcome

 To identify genetic and environmental factors that contribute to the variability in different phenotypes in individuals with WS, SVAS, andSVAS-like conditions

Condition

Williams Syndrome


Study Arms / Comparison Groups

 SVAS group
Description:  Children or adults must:be between the ages of 0-85;have clinical features of SVAS;SVAS- like condition; have genetic testing results that imply affected status (SVAS has decreased penetrance)

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

1000

Start Date

May 11, 2016

Completion Date

September 25, 2040

Primary Completion Date

September 25, 2040

Eligibility Criteria

        -  INCLUSION CRITERIA:

          -  We will recruit individuals with WS, SVAS, or SVAS-like conditions.

          -  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

               -  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)
      

Gender

All

Ages

N/A - 85 Years

Accepts Healthy Volunteers

No

Contacts

Beth A Kozel, M.D., (301) 435-7806, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT02706639

Organization ID

160074

Secondary IDs

16-H-0074

Responsible Party

Sponsor

Study Sponsor

National Heart, Lung, and Blood Institute (NHLBI)


Study Sponsor

Beth A Kozel, M.D., Principal Investigator, National Heart, Lung, and Blood Institute (NHLBI)


Verification Date

March 17, 2021