Fat Distribution and Glucose Metabolism in Williams Syndrome
| Status: | Completed |
|---|---|
| Conditions: | Other Indications |
| Therapuetic Areas: | Other |
| Healthy: | No |
| Age Range: | 14 - 70 |
| Updated: | 4/21/2016 |
| Start Date: | December 2013 |
Characterization of Fat Distribution and Glucose Metabolism in Individuals With and Without Williams Syndrome
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.
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.
Inclusion Criteria
1. M or F age 14-70yo
2. Diagnosis of WS confirmed by FISH or chromosomal microarray (WS only)
3. Availability of a parent or guardian to participate in the consent process (all WS,
and controls <18yo)
Exclusion Criteria
1. History of weight loss surgery or liposuction
2. Use of weight-lowering drugs
3. Positive urine pregnancy test (females only)
4. Obesity or abnormal fat distribution due to a known secondary cause (except WS) such
as Cushing syndrome, HIV-infection, etc.
5. Known diabetes will preclude administration of the OGTT but not participation in
other aspects of the study.
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