Trial record 1 of 290 for:    Williams Syndrome
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Fat Distribution and Glucose Metabolism in Williams Syndrome

This study is currently recruiting participants. (see Contacts and Locations)
Verified October 2014 by Massachusetts General Hospital
Information provided by (Responsible Party):
Takara Stanley, M.D., Massachusetts General Hospital Identifier:
First received: May 10, 2013
Last updated: October 8, 2014
Last verified: October 2014

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 Massachusetts General Hospital:

Primary Outcome Measures:
  • 2-hour glucose [ Time Frame: Baseline ] [ Designated as safety issue: No ]
    Blood glucose concentration two hours after drinking a sugary drink (oral glucose tolerance test)

Secondary Outcome Measures:
  • Percent body fat [ Time Frame: Baseline ] [ Designated as safety issue: No ]
    percent body fat as measured by whole body dual-energy xray absorptiometry (DXA) scanning

  • Low-density lipoprotein cholesterol (LDL) [ Time Frame: Baseline ] [ Designated as safety issue: No ]

Estimated Enrollment: 90
Study Start Date: December 2013
Estimated Primary Completion Date: June 2015 (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
Genders Eligible for Study:   Both
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

Contact: Takara Stanley, MD 617-726-5312
Contact: Barbara Pober, MD

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

No publications provided

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: October 8, 2014
Health Authority: United States: Institutional Review Board

Keywords provided by Massachusetts General Hospital:
Williams Syndrome

Additional relevant MeSH terms:
Williams Syndrome
Aortic Stenosis, Supravalvular
Aortic Valve Stenosis
Cardiovascular Diseases
Chromosome Disorders
Congenital Abnormalities
Genetic Diseases, Inborn
Heart Diseases
Heart Valve Diseases
Intellectual Disability
Nervous System Diseases
Neurobehavioral Manifestations
Neurologic Manifestations processed this record on March 30, 2015