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Williams Syndrome (WS) is a genetic syndrome with features that may include vascular stenoses, neuro-developmental changes, and a variety of endocrine and metabolic abnormalities, including impaired glucose metabolism and abnormal body composition. Approximately 75% of adults with WS have impaired glucose tolerance or diabetes on oral glucose tolerance testing (OGTT). In addition, clinical observations and preliminary data suggest increased overall body fat in these individuals, as well as a relative increase in fat deposition in the lower extremities. However, glucose and lipid metabolism in WS remain incompletely characterized. The purpose of the current study is to carefully describe glucose metabolism and lipid parameters in people with WS.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Williams Syndrome | Children and adults with Williams Syndrome | ||
| Control Group | Controls will be recruited in 2 ways: 1) a gender matched and age- and BMI-similar control for each WS patient, and, 2) sibling controls when available |
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| Measure | Description | Time Frame |
|---|---|---|
| 2-hour glucose | Blood glucose concentration two hours after drinking a sugary drink (oral glucose tolerance test) | Baseline |
| Measure | Description | Time Frame |
|---|---|---|
| Percent body fat | percent body fat as measured by whole body dual-energy xray absorptiometry (DXA) scanning | Baseline |
| Low-density lipoprotein cholesterol (LDL) | Baseline |
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Inclusion Criteria
Exclusion Criteria
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Children and adults with Williams Syndrome (WS), and "control" individuals without WS.
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| Name | Affiliation | Role |
|---|---|---|
| Takara Stanley, MD | Massachusetts General Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Massachusetts General Hospital | Boston | Massachusetts | 02114 | United States |
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| ID | Term |
|---|---|
| D018980 | Williams Syndrome |
| ID | Term |
|---|---|
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
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| D021921 | Aortic Stenosis, Supravalvular |
| D001024 | Aortic Valve Stenosis |
| D000082862 | Aortic Valve Disease |
| D006349 | Heart Valve Diseases |
| D006331 | Heart Diseases |
| D002318 | Cardiovascular Diseases |
| D025063 | Chromosome Disorders |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |