Williams SyndromeNCT02692846
WS-SAVE Study (Williams Syndrome Skin and Vessel Elasticity Study)
An observational study of Williams Syndrome and Cardiovascular Disease, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 year to 70 years
- Conditions the study is for
- Williams Syndrome, Cardiovascular Disease, Multisystem Developmental Disorder
- How many people
- 43 participants
- Where
- 1 siteUnited States
- Study dates
- 3 Mar 2017to 15 Dec 2017
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year to 70 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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.
Show all 19Show fewer
- 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.
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Official title: Williams Syndrome Skin and Vascular Elasticity Study (WS-SAVE Study)
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.
Read more
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).
Read the 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.
- Conditions
- Williams Syndrome, Cardiovascular Disease, Multisystem Developmental Disorder, Elastin Gene Deletion, Hypertension
- Keywords
- CONNECTIVE TISSUE DISEASES, Cardiovascular Disease, Elastin Gene Mutation, Multisystem Developmental Disorder, Natural History
- Medical subject headings
- Williams Syndrome, Cardiovascular Diseases, Hypertension, Connective Tissue Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 | |
| Unaffected Control participants | Not have a diagnosis of WS or other connective tissue disease, between the ages of 1 and 70 years old | |
| WS participants | Have diagnosis of WS, between the ages of 5 and 70 years old. Be able to tolerate blood pressure measurements. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
- clinical and objective assessment of the vasculature and skin in individuals with WS, focusing on its elasticity; 2) analysis as to whether skin and vascular elasticity correlate with each other. 3) identification of genetic risk factors contributing to their variability, and 4) non-invasive measurement of urine biomarkers for oxidative stress. Note: with the NHLBI initial submission, items # 3 and 4 above will no longer be evaluated.
Measured: 2-4
Secondary outcomes (1)
To determine how stable/variable these findings are over time
Skin and vascular elasticity analysis may be repeated in willing individuals at later dates (at least 2 years apart) to assess changes in the measurements with time.
Measured: 2-4 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Feb 2016 (estimated)
- Study start3 Mar 2017
- Primary completion15 Dec 2017
- Study completion15 Dec 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Williams SyndromeStudies of the same condition, open and under way.
- More trials run by National Heart, Lung, and Blood Institute (NHLBI)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 43 participants (actual)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Manfred Boehm, M.D., Principal investigator, National Heart, Lung, and Blood Institute (NHLBI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02692846
- Sponsor's protocol ID
- 160063
- Other IDs
- 16-H-0063
- Status last verified
- 13 Mar 2026
- First submitted
- 25 Feb 2016
- Last updated
- 13 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Pober BR. Williams-Beuren syndrome. N Engl J Med. 2010 Jan 21;362(3):239-52. doi: 10.1056/NEJMra0903074. No abstract available.
PubMed 20089974Urban Z, Peyrol S, Plauchu H, Zabot MT, Lebwohl M, Schilling K, Green M, Boyd CD, Csiszar 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. doi: 10.1046/j.1525-1470.2000.01703.x.
PubMed 10720981
Study at a glance
From the registry record, last updated by the sponsor on 13 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Williams Syndrome Skin and Vascular Elasticity Study (WS-SAVE Study)
- ClinicalTrials.gov ID
- NCT02692846
- Acronym / sponsor ID
- 160063
- Conditions
- Williams Syndrome, Cardiovascular Disease, Multisystem Developmental Disorder, Elastin Gene Deletion, Hypertension
- Keywords
- CONNECTIVE TISSUE DISEASES, Cardiovascular Disease, Elastin Gene Mutation, Multisystem Developmental Disorder, Natural History
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 43 participants (actual)
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)US National Institutes of Health
- Study start
- 3 Mar 2017 (actual)
- Primary completion
- 15 Dec 2017 (actual)
- Study completion
- 15 Dec 2017 (actual)
- First posted
- 26 Feb 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| 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 |
| Unaffected Control participants | – | –Not have a diagnosis of WS or other connective tissue disease, between the ages of 1 and 70 years old |
| WS participants | – | –Have diagnosis of WS, between the ages of 5 and 70 years old. Be able to tolerate blood pressure measurements. |
Who may qualify
- Ages
- 1 year to 70 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (19 listed)
- 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.
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
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
Time frame: 2-4
1) clinical and objective assessment of the vasculature and skin in individuals with WS, focusing on its elasticity; 2) analysis as to whether skin and vascular elasticity correlate with each other. 3) identification of genetic risk factors contributing to their variability, and 4) non-invasive measurement of urine biomarkers for oxidative stress. Note: with the NHLBI initial submission, items # 3 and 4 above will no longer be evaluated.
1 secondary outcome
To determine how stable/variable these findings are over time
Time frame: 2-4 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Oct 2026.
- Background: PubMed 20089974Pober BR. Williams-Beuren syndrome. N Engl J Med. 2010 Jan 21;362(3):239-52. doi: 10.1056/NEJMra0903074. No abstract available.
- Background: PubMed 10720981Urban Z, Peyrol S, Plauchu H, Zabot MT, Lebwohl M, Schilling K, Green M, Boyd CD, Csiszar 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. doi: 10.1046/j.1525-1470.2000.01703.x.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
Related trials for Williams Syndrome
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Parent and Infant Inter(X)Action Intervention (PIXI)
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Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Manfred Boehm, M.D. principal investigator
National Heart, Lung, and Blood Institute (NHLBI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Williams Syndrome and Cardiovascular Disease, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 19 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 13 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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 (time frame: 2-4). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02692846, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Oct 2026.