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.

Full Title of Study: “Characterization of Fat Distribution and Glucose Metabolism in Individuals With and Without Williams Syndrome”

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Cross-Sectional
  • Study Primary Completion Date: February 2016

Arms, Groups and Cohorts

  • 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

Clinical Trial Outcome Measures

Primary Measures

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

Secondary 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

Participating in This Clinical Trial

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.

Gender Eligibility: All

Minimum Age: 14 Years

Maximum Age: 70 Years

Are Healthy Volunteers Accepted: Accepts Healthy Volunteers

Investigator Details

  • Lead Sponsor
    • Massachusetts General Hospital
  • Provider of Information About this Clinical Study
    • Principal Investigator: Takara Stanley, M.D., Assistant Pediatrician – Massachusetts General Hospital
  • Overall Official(s)
    • Takara Stanley, MD, Principal Investigator, Massachusetts General Hospital

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