Fat Distribution and Glucose Metabolism in Williams Syndrome

Completed

Conditions studied: Williams Syndrome

In brief

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.

Key facts

Study ID

NCT01864304

Run by

Massachusetts General Hospital

People needed

24

Starts

2013-12-01

Expected to finish

2016-02-01

Last updated by the study team

2017-01-10

Who can join

Age: 14 and older, up to 70. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• M or F age 14-70yo
• Diagnosis of WS confirmed by FISH or chromosomal microarray (WS only)
• Availability of a parent or guardian to participate in the consent process (all WS, and controls <18yo)

You may not qualify if…

• History of weight loss surgery or liposuction
• Use of weight-lowering drugs
• Positive urine pregnancy test (females only)
• Obesity or abnormal fat distribution due to a known secondary cause (except WS) such as Cushing syndrome, HIV-infection, etc.
• Known diabetes will preclude administration of the OGTT but not participation in other aspects of the study.

Where it is running

• Massachusetts General Hospital — Boston, Massachusetts, United States

Full record on ClinicalTrials.gov

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