Fat Distribution and Glucose Metabolism in Williams Syndrome

NCT01864304 | Completed

• 1 other identifier: 2013P000068
• Study Type: observational
• Target: 24
• Locations: 1 country
• Sites: 1

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.

Conditions

Williams Syndrome

Keywords

Williams Syndrome

Outcome Measures

Primary Outcomes (1)

• 2-hour glucose

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

  Baseline

Secondary Outcomes (2)

• Percent body fat

  Baseline

• Low-density lipoprotein cholesterol (LDL)

  Baseline

Study Arms (2)

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 Criteria

• Age: 14 Years - 70 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Children and adults with Williams Syndrome (WS), and "control" individuals without WS.

You may qualify if:

• M or F age 14-70yo
• Diagnosis of WS confirmed by FISH or chromosomal microarray (WS only)
• Availability of a parent or guardian to participate in the consent process (all WS, and controls \<18yo)

You may not qualify if:

• History of weight loss surgery or liposuction
• Use of weight-lowering drugs
• Positive urine pregnancy test (females only)
• Obesity or abnormal fat distribution due to a known secondary cause (except WS) such as Cushing syndrome, HIV-infection, etc.
• Known diabetes will preclude administration of the OGTT but not participation in other aspects of the study.

Sponsors & Collaborators

• Massachusetts General Hospital: lead

Study Sites (1)

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

Location

MeSH Terms

Conditions

Williams Syndrome

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Aortic Stenosis, Supravalvular; Aortic Valve Stenosis; Aortic Valve Disease; Heart Valve Diseases; Heart Diseases; Cardiovascular Diseases; Chromosome Disorders; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Officials

• Takara Stanley, MD

  Massachusetts General Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Pediatrician

Study Record Dates

• First Submitted: May 10, 2013
• First Posted: May 29, 2013
• Study Start: December 1, 2013
• Primary Completion: February 1, 2016
• Study Completion: February 1, 2016
• Last Updated: January 10, 2017

Record last verified: 2017-01

Locations

US (1)