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Protocol Details

Impact of Elastin Mediated Vascular Stiffness on End Organs

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

16-H-0144

Sponsoring Institute

National Heart, Lung and Blood Institute (NHLBI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 3
Max Age: 85

Referral Letter Required

No

Population Exclusion(s)

Non-English Speaking

Special Instructions

Currently Not Provided

Keywords

Williams Syndrome;
Blood Flow;
Brain;
Arterial Stiffness

Recruitment Keyword(s)

None

Condition(s)

Williams Syndrome;
Supravalvular Aortic Stenosis;
Cardiovascular Disease

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Heart, Lung, and Blood Institute

Background:

People with Williams Syndrome (WS) and supravalvular aortic stenosis (SVAS) have less elasticity in their blood vessels. This is called blood vessel stiffness. Blood vessels may have focal narrowings called stenoses or may just be globally more narrow.

Objectives:

Researchers want to see how blood vessel differences in people with Williams Syndrome and supravalvular aortic stenosis affect organs in the body including the heart, gut, kidneys, and brain.

Eligibility:

People ages 3-85 who have WS or SVAS

Healthy volunteers ages 3-85

Design:

-Participants will have yearly visits for up to 10 years. All participants will be offered the same tests.

-Participants will give consent for the study team to review their medical records. If the participant is a child or an adult with WS, a parent or guardian will give the consent.

-Participants will visit the NIH where they will have a physical exam and medical history. Based on their health history, participants will undergo a series of imaging tests and measures of blood vessel function over the course of 2-4 days. Tests of cognitive abilites will also be performed. Blood will be drawn and an IV may be placed for specific tests.

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Eligibility

INCLUSION CRITERIA:

We will recruit individuals with WS or SVAS and demographically similar control (unaffected) participants.

Children or adults with WS must:

-be between the ages of 3 and 85

-have a presumed or confirmed diagnosis of WS (genetic testing is not performed in this research study).

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

-not be pregnant

Children or adults with SVAS must:

-be between the ages of 3 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 participating in the study as part of control group must:

- be between the ages of 5 and 85

- not have clinical features or genetic profile suggestive of WS, SVAS or an SVAS-like condition. No genetic testing will be performed in this research study

- have a parent/guardian available to provide consent and assist in answering medical questions if they are a minor (not applicable to adults)


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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.

Franklin SS. Beyond blood pressure: Arterial stiffness as a new biomarker of cardiovascular disease. J Am Soc Hypertens. 2008 May-Jun;2(3):140-51. doi: 10.1016/j.jash.2007.09.002.

Gorelick PB, Scuteri A, Black SE, Decarli C, Greenberg SM, Iadecola C, Launer LJ, Laurent S, Lopez OL, Nyenhuis D, Petersen RC, Schneider JA, Tzourio C, Arnett DK, Bennett DA, Chui HC, Higashida RT, Lindquist R, Nilsson PM, Roman GC, Sellke FW, Seshadri S; American Heart Association Stroke Council, Council on Epidemiology and Prevention, Council on Cardiovascular Nursing, Council on Cardiovascular Radiology and Intervention, and Council on Cardiovascular Surgery and Anesthesia. Vascular contributions to cognitive impairment and dementia: a statement for healthcare professionals from the american heart association/american stroke association. Stroke. 2011 Sep;42(9):2672-713. doi: 10.1161/STR.0b013e3182299496. Epub 2011 Jul 21.

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Contacts:

Principal Investigator

Referral Contact

For more information:

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



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: 1-866-411-1010
PRPL@cc.nih.gov

Clinical Trials Number:

NCT02840448

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