Fat Distribution and Glucose Metabolism in Williams Syndrome

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

COMPLETED

Total Enrollment

24 participants

Study Classification

OBSERVATIONAL

Study Start Date

2013-12-31

Study Completion Date

2016-02-29

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Longitudinal Studies to Identify Biomarkers for Sturge-Weber Syndrome

NCT04717427

Sturge-Weber Syndrome

RECRUITING

Wolfram Syndrome and WFS1-related Disorders International Registry and Clinical Study

NCT02841553

Wolfram Syndrome Diabetes Mellitus Optic Nerve Atrophy +3 more

RECRUITING

Tracking Neurodegeneration in Early Wolfram Syndrome

NCT02455414

Type 1 Diabetes Diabetes Insipidus Diabetes Mellitus +1 more

COMPLETED

OGT 918-006: A Phase I/II Randomized, Controlled Study of OGT 918 in Patients With Neuronopathic Gaucher Disease

NCT00041535

Gaucher Disease

COMPLETED PHASE2

A Study of GLWL-01 in Patients With Prader-Willi Syndrome

NCT03274856

Prader-Willi Syndrome

COMPLETED PHASE2

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Williams Syndrome

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

COHORT

Study Time Perspective

CROSS_SECTIONAL

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Williams Syndrome

Children and adults with Williams Syndrome

No interventions assigned to this group

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

No interventions assigned to this group

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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.

Minimum Eligible Age

14 Years

Maximum Eligible Age

70 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes