Fat Distribution and Glucose Metabolism in Williams Syndrome

Brief Title

Fat Distribution and Glucose Metabolism in Williams Syndrome

Official Title

Characterization of Fat Distribution and Glucose Metabolism in Individuals With and Without Williams Syndrome

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.
    



Study Type

Observational


Primary Outcome

2-hour glucose

Secondary Outcome

 Percent body fat

Condition

Williams Syndrome


Study Arms / Comparison Groups

 Williams Syndrome
Description:  Children and adults with Williams Syndrome

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

24

Start Date

December 2013

Completion Date

February 2016

Primary Completion Date

February 2016

Eligibility 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.
      

Gender

All

Ages

14 Years - 70 Years

Accepts Healthy Volunteers

Accepts Healthy Volunteers

Contacts

Takara Stanley, MD, , 

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT01864304

Organization ID

2013P000068


Responsible Party

Principal Investigator

Study Sponsor

Massachusetts General Hospital


Study Sponsor

Takara Stanley, MD, Principal Investigator, Massachusetts General Hospital


Verification Date

January 2017