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

Brief Title

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

Official Title

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

Brief Summary

      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).

      ...
    

Detailed Description

      Williams syndrome (WS) is a multisystem developmental disorder caused by deletion of 26-28
      genes, including the elastin gene, located on chromosome 7q11.23. Cardiovascular disease in
      WS, including obstructive vascular disease and hypertension, and relatively mild skin changes
      are caused by the elastin gene deletion. Even though all WS subjects are missing one copy of
      this gene, the expression of cardiovascular problems is highly variable, ranging from no
      significant disease to severe generalized arteriopathy leading to infant death. The causes of
      vascular variability are currently unknown, and male gender is the only disease modifier
      described to date. Clinically, skin is described as abnormally soft, smooth and easily
      mobilized , while ultrastructurally the elastic fibers are abnormal with reduced amorphous
      elastin.

      The overall objective of this study is to establish quantitative norms that can be used to
      determine the severity of vascular disease in elastin insufficiency and then to identify risk
      factors that contribute to that variability. It is also important to determine how
      stable/variable these findings are over time.
    


Study Type

Observational


Primary Outcome

To identify risk factors that contribute to the variability in cardiovascular and skin phenotype in individuals with Williams syndrome, primarily focusing on differences in elasticity and compliance

Secondary Outcome

 To determine how stable/variable these findings are over time

Condition

Williams Syndrome


Study Arms / Comparison Groups

 Control participants with connective tissue disease
Description:  Not have a diagnosis of WS. Have a clinical or molecular diagnosis of connective tissue disease, between the ages of 1 and 70 years old

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

43

Start Date

March 3, 2017

Completion Date

December 15, 2017

Primary Completion Date

December 15, 2017

Eligibility Criteria

        -  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.
      

Gender

All

Ages

1 Year - 70 Years

Accepts Healthy Volunteers

No

Contacts

Beth A Kozel, M.D., , 

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT02692846

Organization ID

160063

Secondary IDs

16-H-0063

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

November 17, 2020