ClinicalTrials.gov
ClinicalTrials.gov Menu

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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT02706639
Recruitment Status : Recruiting
First Posted : March 11, 2016
Last Update Posted : November 2, 2018
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) )

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.


Condition or disease
Williams Syndrome Supravalvular Aortic Stenosis Cardiovascular Disease

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
Estimated Enrollment : 1000 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue Bank
Study Start Date : March 8, 2016
Estimated Primary Completion Date : September 25, 2025
Estimated Study Completion Date : September 25, 2025


Group/Cohort
WS group
Children or adults must: be between the ages of 0 and 85 have a presumed or confirmed diagnosis of WS; and have a parent/guardian available to provide consent and assist in answering medical questions
SVAS group
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)



Primary Outcome Measures :
  1. 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. [ Time Frame: ongoing ]
    The overall objective of this study is to collect historical information and to bank DNA, cells, and tissue from individuals with WS and SVAS to facilitate future research into the many phenotypes seen in these individuals.


Secondary Outcome Measures :
  1. To identify genetic and environmental factors that contribute to the variability in different phenotypes in individuals with WS, SVAS, andSVAS-like conditions [ Time Frame: ongoing ]
    To identify genetic and environmental factors that contribute to the variability in different phenotypes (vascular and non-vascular) in individuals with WS, SVAS and SVAS-like conditions. For the non-vascular features of WS and SVAS-like conditions for which a specific gene has not been implicated in the disease, we would also like to identify causative genes.



Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   up to 85 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Study Population
Supravalvular aortic stenosis (SVAS) patients and William's syndrome (WS) patients
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)

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02706639


Contacts
Contact: Sharon Osgood, R.N. (301) 827-3237 sharon.osgood@nih.gov

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)    800-411-1222 ext TTY8664111010    prpl@cc.nih.gov   
United States, South Carolina
Medical University of S. Carolina Recruiting
Charleston, South Carolina, United States, 29425
Contact: Michael Lugo    201-220-9541    michael.lugo@nih.gov   
Sponsors and Collaborators
National Heart, Lung, and Blood Institute (NHLBI)
Investigators
Principal Investigator: Beth A Kozel, M.D. National Heart, Lung, and Blood Institute (NHLBI)

Additional Information:
Responsible Party: National Heart, Lung, and Blood Institute (NHLBI)
ClinicalTrials.gov Identifier: NCT02706639     History of Changes
Other Study ID Numbers: 160074
16-H-0074
First Posted: March 11, 2016    Key Record Dates
Last Update Posted: November 2, 2018
Last Verified: October 30, 2018

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) ):
Biospecimen Procurement
Laboratory Research Specimens
Sample Collection
Rare Diseases

Additional relevant MeSH terms:
Syndrome
Williams Syndrome
Cardiovascular Diseases
Constriction, Pathologic
Aortic Valve Stenosis
Aortic Stenosis, Supravalvular
Disease
Pathologic Processes
Pathological Conditions, Anatomical
Heart Valve Diseases
Heart Diseases
Ventricular Outflow Obstruction
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Chromosome Disorders
Congenital Abnormalities
Genetic Diseases, Inborn