Fat Distribution and Glucose Metabolism in Williams Syndrome

Williams Syndrome Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01864304
• Other study ID #: 2013P000068
• Status: Completed
• Phase: N/A
• First received: May 10, 2013
• Last updated: January 6, 2017
• Start date: December 2013
• Est. completion date: February 2016

Study information

• Verified date: January 2017
• Source: Massachusetts General Hospital
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Institutional Review Board
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 24
• Est. completion date: February 2016
• Est. primary completion date: February 2016
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 14 Years to 70 Years

Eligibility

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.

Study Design

Observational Model: Cohort, Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

• Syndrome
• Williams Syndrome

Locations

Country	Name	City	State
United States	Massachusetts General Hospital	Boston	Massachusetts

Sponsors (1)

Lead Sponsor	Collaborator
Massachusetts General Hospital

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	2-hour glucose	Blood glucose concentration two hours after drinking a sugary drink (oral glucose tolerance test)	Baseline	No
Secondary	Percent body fat	percent body fat as measured by whole body dual-energy xray absorptiometry (DXA) scanning	Baseline	No
Secondary	Low-density lipoprotein cholesterol (LDL)		Baseline	No