Fat Distribution and Glucose Metabolism in Williams Syndrome

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.

Study Overview

• Status: Completed
• Conditions: Williams Syndrome

• Study Type: Observational
• Enrollment (Actual): 24

Contacts and Locations

Study Locations

• United States
  • Massachusetts
    • Boston, Massachusetts, United States, 02114
      • Massachusetts General Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 14 years to 70 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Children and adults with Williams Syndrome (WS), and "control" individuals without WS.

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Cross-Sectional

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
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

What is the study measuring?

Primary Outcome Measures

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

Secondary Outcome Measures

Outcome Measure	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

Collaborators and Investigators

• Sponsor: Massachusetts General Hospital
• Investigators: Principal Investigator: Takara Stanley, MD, Massachusetts General Hospital

Study record dates

Study Major Dates

• Study Start: December 1, 2013
• Primary Completion (Actual): February 1, 2016
• Study Completion (Actual): February 1, 2016

Study Registration Dates

• First Submitted: May 10, 2013
• First Submitted That Met QC Criteria: May 24, 2013
• First Posted (Estimate): May 29, 2013

Study Record Updates

• Last Update Posted (Estimate): January 10, 2017
• Last Update Submitted That Met QC Criteria: January 6, 2017
• Last Verified: January 1, 2017

More Information

Terms related to this study

• Keywords: Williams Syndrome
• Additional Relevant MeSH Terms: Pathologic Processes; Heart Diseases; Cardiovascular Diseases; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Disease; Congenital Abnormalities; Genetic Diseases, Inborn; Aortic Valve Disease; Heart Valve Diseases; Intellectual Disability; Chromosome Disorders; Aortic Valve Stenosis; Aortic Stenosis, Supravalvular; Syndrome; Williams Syndrome
• Other Study ID Numbers: 2013P000068