WS-SAVE Study (Williams Syndrome Skin and Vessel Elasticity Study)
Condition: Williams Syndrome; Cardiovascular Disease; Multisystem Developmental Disorder; Elastin Gene Deletion; Hypertension
MeSH terms: Williams Syndrome; Cardiovascular Diseases; Syndrome; Developmental Disabilities
Study type: Observational

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.
    

Observational model: Case-Control
Time perspective: Prospective
Sampling method: Non-Probability Sample
Study population: 
        We will recruit three subject populations, individuals with WS and two control populations,
        one unaffected and one with known connective tissue disease. Affected subjects being
        screened for a research protocol or already on a research protocol at the NIH Clinical
        Center (CC) may be contacted by their physician about this study.@@@Subjects who are able
        to visit the NIH CC will be enrolled in person by the PI or approved AIs of the study, as
        mentioned in the previous section. For off-site subjects, the PI or approved AIs of this
        protocol may conduct an in-person, off-site meeting with the subject to carefully explain
        the research objectives, procedure(s), and relevant risks and discomforts of this protocol
        or attend WSA meetings that occur every 2 years and consent the subject at the meeting
        place.
      
Keywords: CONNECTIVE TISSUE DISEASES; Cardiovascular Disease; Elastin Gene Mutation; Multisystem Developmental Disorder; Natural History