Fat Distribution and Glucose Metabolism in Williams Syndrome

Characterization of Fat Distribution and Glucose Metabolism in Individuals With and Without Williams Syndrome

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01864304

Enrollment

Registered

2013-05-29

Start date

2013-12-31

Completion date

2016-02-29

Last updated

2017-01-10

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Williams Syndrome

Keywords

Williams Syndrome

Brief summary

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Age

14 Years to 70 Years

Healthy volunteers

Yes

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.

Design outcomes

Primary

Measure	Time frame	Description
2-hour glucose	Baseline	Blood glucose concentration two hours after drinking a sugary drink (oral glucose tolerance test)

Secondary

Measure	Time frame	Description
Percent body fat	Baseline	percent body fat as measured by whole body dual-energy xray absorptiometry (DXA) scanning
Low-density lipoprotein cholesterol (LDL)	Baseline	—

Countries

United States

Outcome results