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Protocol Details

Williams Syndrome Skin and Vascular Elasticity Study (WS-SAVE Study)

This study is NOT currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

16-H-0063

Sponsoring Institute

National Heart, Lung and Blood Institute (NHLBI)

Recruitment Detail

Type: Completed Study; data analyses ongoing
Gender: Male & Female
Min Age: 1
Max Age: 70

Referral Letter Required

No

Population Exclusion(s)

None

Keywords

CONNECTIVE TISSUE DISEASES;
Cardiovascular Disease;
Elastin Gene Mutation;
Multisystem Developmental Disorder;
Natural History

Recruitment Keyword(s)

None

Condition(s)

Williams Syndrome;
Cardiovascular Disease;
Multisystem Developmental Disorder;
Elastin Gene Deletion;
Hypertension

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Heart, Lung and Blood Institute

Background:

Williams Syndrome (WS) is a genetic disorder. People with WS have less of a protein that allows parts of the body to stretch than other individuals. Researchers are interested in the stretchiness of the skin of people with WS and how it may relate to cardiovascular problems some people with WS develop. They are also interested in identifying exposures such as medications that may change the elasticity of the skin and vessels.

Objective:

To learn more about the skin and blood vessels in individuals with WS and how those tissues change over time.

Eligibility:

People ages 5-70 with WS.

People ages 1-70 with a medical condition that affects connective tissue.

Design:

Participants will be screened with a review of their medical records.

Participants will have 1 visit. Participants with WS may do so at a Williams Syndrome Association family meeting or camp, or at NIH. Other participants will be seen at NIH.

During the visit, participants will have height, weight, and blood pressure measured.

Researchers will listen to the participant s chest and abdomen.

Participants skin will be examined. It may be photographed.

Participants will have photos of their eyes and face taken.

Researchers will use a DermaLab Suction Cup Probe. A small suction cup will be placed on the arm with a sticker. It will pull lightly on the skin. This allows a computer to measure skin flexibility.

Researchers will use a SphygmoCor. A probe that looks like a dull pencil will be placed on the wrist, neck, and groin area. A computer will measure how fast the pulse is moving and will estimate blood vessel flexibility.

Participants may be invited to have these procedures repeated at a later date (2 years from now or more).

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Eligibility

INCLUSION/EXCLUSION CRITERIA:

For WS participants:

Individuals participating in this study must:

-Have a diagnosis of WS

-Be between the ages of 5 and 70 years old

-Be able to tolerate blood pressure measurements

-Have a parent/guardian available to provide consent and assist in answering medical questions.

-Express willingness to schedule an in-person assessment with us.

The only indication for study staff to terminate an individual s participation in this study would be if the family is unable to schedule an in-person assessment with us.

For unaffected control participants:

Individuals participating in this study must:

-Not have a diagnosis of WS or other connective tissue disease.

-Be between the ages of 1 and 70 years old

-If a minor, have a parent/guardian available to provide consent and assist in answering medical questions.

For control participants with connective tissue disease:

Individuals participating in this study must:

-Not have a diagnosis of WS

-Have a clinical or molecular diagnosis of connective tissue disease.

-Be between the ages of 1 and 70 years old

-If a minor, have a parent/guardian available to provide consent and assist in answering medical questions.


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Citations:

Pober BR. Williams-Beuren syndrome. N Engl J Med. 2010 Jan 21;362(3):239-52. doi: 10.1056/NEJMra0903074. Review. Erratum in: N Engl J Med. 2010 Jun 3;362(22):2142.

Urb(SqrRoot)(Degree)n Z, Peyrol S, Plauchu H, Zabot MT, Lebwohl M, Schilling K, Green M, Boyd CD, Csisz(SqrRoot)(Degree)r K. Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotype. Pediatr Dermatol. 2000 Jan-Feb;17(1):12-20.

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Contacts:

Principal Investigator

Referral Contact

For more information:

Manfred Boehm, M.D.
National Heart, Lung and Blood Institute (NHLBI)
National Institutes of Health
Building 10
Room 5-3132
10 Center Drive
Bethesda, Maryland 20892
(301) 435-7211
boehmm@nhlbi.nih.gov

Sharon Osgood, R.N.
National Heart, Lung and Blood Institute (NHLBI)
National Institutes of Health
Building 10
Room 3-2473
10 Center Drive
Bethesda, Maryland 20892
(301) 827-3237
sharon.osgood@nih.gov

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
ccopr@nih.gov

Clinical Trials Number:

NCT02692846

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