Fat Distribution and Glucose Metabolism in 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.

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Key information

Conditions

Williams Syndrome Aortic Stenosis, Supravalvular Aortic Valve Disease Aortic Valve Stenosis Cardiovascular Diseases Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heart Diseases Heart Valve Diseases Intellectual Disability Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations

Age range

14 year–70 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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)

Exclusion criteria

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.

Treatment and study plan

Primary outcomes

2-hour glucose

Time frame: Baseline

Blood glucose concentration two hours after drinking a sugary drink (oral glucose tolerance test)

Secondary outcomes

Percent body fat

Time frame: Baseline

percent body fat as measured by whole body dual-energy xray absorptiometry (DXA) scanning
Low-density lipoprotein cholesterol (LDL)

Time frame: Baseline

Sponsors and collaborators

Lead sponsor

Massachusetts General Hospital

Other

Registry information

Official study title

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

Important dates

Study start: 2013
Primary completion: 2016
Study completion: 2016
First posted: May 29, 2013
Registry last updated: Jan 10, 2017

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

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