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Fat Distribution and Glucose Metabolism in Williams Syndrome

This study has been completed.
Information provided by (Responsible Party):
Takara Stanley, M.D., Massachusetts General Hospital Identifier:
First received: May 10, 2013
Last updated: January 6, 2017
Last verified: January 2017
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.

Williams Syndrome

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: Characterization of Fat Distribution and Glucose Metabolism in Individuals With and Without Williams Syndrome

Resource links provided by NLM:

Further study details as provided by Takara Stanley, M.D., Massachusetts General Hospital:

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

Secondary Outcome Measures:
  • 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 ]

Enrollment: 24
Study Start Date: December 2013
Study Completion Date: February 2016
Primary Completion Date: February 2016 (Final data collection date for primary outcome measure)
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


Ages Eligible for Study:   14 Years to 70 Years   (Child, Adult, Senior)
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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01864304

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

Responsible Party: Takara Stanley, M.D., Assistant Pediatrician, Massachusetts General Hospital Identifier: NCT01864304     History of Changes
Other Study ID Numbers: 2013P000068
Study First Received: May 10, 2013
Last Updated: January 6, 2017

Keywords provided by Takara Stanley, M.D., Massachusetts General Hospital:
Williams Syndrome

Additional relevant MeSH terms:
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 processed this record on September 21, 2017