Ignite Creation Date:
2024-05-06 @ 8:14 AM
Last Modification Date:
2024-10-26 @ 11:57 AM
Study NCT ID:
NCT02692846
Status:
COMPLETED
Last Update Posted:
2024-06-13
First Post:
2016-02-25
Brief Title:
WS-SAVE Study Williams Syndrome Skin and Vessel Elasticity Study
Sponsor:
National Heart Lung and Blood Institute NHLBI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Williams Syndrome Skin and Vascular Elasticity Study WS-SAVE Study
Status:
COMPLETED
Status Verified Date:
2024-06-10
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
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 7q1123 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 stablevariable these findings are over time
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 stablevariable these findings are over time
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 16-H-0063 | None | None | None |