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Trial record 1 of 181 for:    Williams Syndrome
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Fat Distribution and Glucose Metabolism in Williams Syndrome

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT01864304
First Posted: May 29, 2013
Last Update Posted: January 10, 2017
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.
Information provided by (Responsible Party):
Takara Stanley, M.D., Massachusetts General Hospital
  Purpose
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
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)
Groups/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

  Eligibility

Information from the National Library of Medicine

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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.
Criteria

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
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 ClinicalTrials.gov identifier (NCT number): NCT01864304


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

Responsible Party: Takara Stanley, M.D., Assistant Pediatrician, Massachusetts General Hospital
ClinicalTrials.gov Identifier: NCT01864304     History of Changes
Other Study ID Numbers: 2013P000068
First Submitted: May 10, 2013
First Posted: May 29, 2013
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:
Syndrome
Williams Syndrome
Disease
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