Fat Distribution and Glucose Metabolism in Williams Syndrome

• Sponsor: Massachusetts General Hospital (Other)
• Overall Status: Completed
• CT.gov ID: NCT01864304
• Collaborator: (none)
• Enrollment: 24
• Location: 1
• Duration (Months): 26
• Patients Per Site Per Month: 0.9

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Williams Syndrome

Study Design

• Study Type: Observational
• Actual Enrollment: 24 participants
• Observational Model: Cohort
• Time Perspective: Cross-Sectional
• Official Title: Characterization of Fat Distribution and Glucose Metabolism in Individuals With and Without Williams Syndrome
• Study Start Date: Dec 1, 2013
• Actual Primary Completion Date: Feb 1, 2016
• Actual Study Completion Date: Feb 1, 2016

Arms and Interventions

Arm	Intervention/Treatment
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

Outcome Measures

Primary Outcome Measures

1. 2-hour glucose [Baseline]

   Blood glucose concentration two hours after drinking a sugary drink (oral glucose tolerance test)

Secondary Outcome Measures

1. Percent body fat [Baseline]

   percent body fat as measured by whole body dual-energy xray absorptiometry (DXA) scanning

2. Low-density lipoprotein cholesterol (LDL) [Baseline]

Eligibility Criteria

Criteria

• Ages Eligible for Study: 14 Years to 70 Years
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: Yes

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

Locations

	Site	City	State	Country	Postal Code
1	Massachusetts General Hospital	Boston	Massachusetts	United States	02114

Sponsors and Collaborators

• Massachusetts General Hospital

Investigators

• Principal Investigator: Takara Stanley, MD, Massachusetts General Hospital

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: Takara Stanley, M.D., Assistant Pediatrician, Massachusetts General Hospital
• ClinicalTrials.gov Identifier: NCT01864304
• Other Study ID Numbers: 2013P000068
• First Posted: May 29, 2013
• Last Update Posted: Jan 10, 2017
• Last Verified: Jan 1, 2017

• Keywords provided by Takara Stanley, M.D., Assistant Pediatrician, Massachusetts General Hospital: Williams Syndrome
• Additional relevant MeSH terms: Williams Syndrome; Syndrome

Study Results

No Results Posted as of Jan 10, 2017