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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

COMPLETED

Total Enrollment

43 participants

Study Classification

OBSERVATIONAL

Study Start Date

2017-03-03

Study Completion Date

2017-12-15

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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).

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Williams Syndrome (WS) and Supravalvar Aortic Stenosis (SVAS) DNA and Tissue Bank

NCT02706639

Williams Syndrome Supravalvular Aortic Stenosis Cardiovascular Disease

RECRUITING

Quantification of Elastin Markers Synthesis in Williams-Beuren Syndrome and 7q11.23 Micro-duplication Syndrome

NCT04051086

Williams-Beuren Syndrome Micro-duplication 7q11.23 Syndrome Vasculopathy

UNKNOWN NA

Williams Syndrome Strength, Hormones, Activity & Adiposity, DNA Programming, Eating Study

NCT03758651

Williams Syndrome Lipedema

COMPLETED

An Open Label Study for Palmar Hyperhydrosis

NCT04906655

Palmar Hyperhidrosis Hyperhidrosis Sweat Gland Diseases +1 more

COMPLETED PHASE2

Correlation of Hyperghrelinemia With Carotid Artery Intima-Media Thickness in Children With Prader-Willi Syndrome

NCT00474643

Prader Willi Syndrome Obesity

COMPLETED

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Williams Syndrome Cardiovascular Disease Multisystem Developmental Disorder Elastin Gene Deletion Hypertension

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Control participants with connective tissue disease

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

No interventions assigned to this group

Unaffected Control participants

Not have a diagnosis of WS or other connective tissue disease, between the ages of 1 and 70 years old

No interventions assigned to this group

WS participants

Have diagnosis of WS, between the ages of 5 and 70 years old. Be able to tolerate blood pressure measurements.

No interventions assigned to this group

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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.

Minimum Eligible Age

1 Year

Maximum Eligible Age

70 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No