Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue Bank
| Status: | Recruiting |
|---|---|
| Conditions: | Other Indications, Peripheral Vascular Disease, Cardiology |
| Therapuetic Areas: | Cardiology / Vascular Diseases, Other |
| Healthy: | No |
| Age Range: | Any - 85 |
| Updated: | 3/7/2019 |
| Start Date: | January 1, 2016 |
| End Date: | September 25, 2025 |
| Contact: | Sharon Osgood, R.N. |
| Email: | sharon.osgood@nih.gov |
| Phone: | (301) 827-3237 |
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.
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.
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.
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.
- 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)
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
Phone: 800-411-1222
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