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Fat Distribution and Glucose Metabolism in Williams Syndrome

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01864304
Recruitment Status : Completed
First Posted : May 29, 2013
Last Update Posted : January 10, 2017
Information provided by (Responsible Party):
Takara Stanley, M.D., Massachusetts General Hospital

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.

Condition or disease
Williams Syndrome

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Study Type : Observational
Actual Enrollment : 24 participants
Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: Characterization of Fat Distribution and Glucose Metabolism in Individuals With and Without Williams Syndrome
Study Start Date : December 2013
Actual Primary Completion Date : February 2016
Actual Study Completion Date : February 2016

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

Primary Outcome Measures :
  1. 2-hour glucose [ Time Frame: Baseline ]
    Blood glucose concentration two hours after drinking a sugary drink (oral glucose tolerance test)

Secondary Outcome Measures :
  1. Percent body fat [ Time Frame: Baseline ]
    percent body fat as measured by whole body dual-energy xray absorptiometry (DXA) scanning

  2. Low-density lipoprotein cholesterol (LDL) [ Time Frame: Baseline ]

Information from the National Library of Medicine

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Ages Eligible for Study:   14 Years to 70 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Children and adults with Williams Syndrome (WS), and "control" individuals without WS.

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01864304

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United States, Massachusetts
Massachusetts General Hospital
Boston, Massachusetts, United States, 02114
Sponsors and Collaborators
Massachusetts General Hospital
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Principal Investigator: Takara Stanley, MD Massachusetts General Hospital

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Responsible Party: Takara Stanley, M.D., Assistant Pediatrician, Massachusetts General Hospital Identifier: NCT01864304     History of Changes
Other Study ID Numbers: 2013P000068
First Posted: May 29, 2013    Key Record Dates
Last Update Posted: January 10, 2017
Last Verified: January 2017
Keywords provided by Takara Stanley, M.D., Massachusetts General Hospital:
Williams Syndrome
Additional relevant MeSH terms:
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Williams Syndrome
Pathologic Processes
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Aortic Stenosis, Supravalvular
Aortic Valve Stenosis
Heart Valve Diseases
Heart Diseases
Cardiovascular Diseases
Chromosome Disorders
Congenital Abnormalities
Genetic Diseases, Inborn