Williams Syndrome Strength, Hormones, Activity & Adiposity, DNA Programming, Eating Study

Completed

• Conditions: Williams Syndrome; Lipedema

• Registration Number: NCT03758651
• Lead Sponsor: Massachusetts General Hospital

Brief Summary

Williams syndrome (WS) is a rare microdeletion genetic disorder that has a broad phenotype including many endocrine and metabolic abnormalities. Dr. Pober and colleagues at MGH have reported the following findings in adults with WS: abnormal body composition (excess body fat accumulation with a lipedema phenotype), decreased bone mineral density, abnormal glucose tolerance, and reduced lean mass. Despite the high prevalence and potential effect of metabolic abnormalities on the health of persons with WS, their full phenotypic range, potential causal factors (either genetic and/or hormonal) along with their impact on other aspects of health (such as risk of falls and fractures or interaction with emotional behavioral concerns) remain incompletely characterized. The purpose of the current study in a large cohort of subjects with WS is to: collect further information to characterize the timing of onset and distribution of body fat; better characterize hormonal status of WS subjects; and screen for genetic variation using single-nucleotide-polymorphism (SNP) analysis that could elucidate genetic contributors to the lipedema phenotype as well as the other observed metabolic and bone abnormalities.

Detailed Description

Not available

Study Timeline

• Study Start: 2018-10-01
• Study First Submitted: 2018-11-26
• Study First Submitted QC: 2018-11-28
• Study First Posted: 2018-11-29
• Primary Completion: 2022-11-30
• Study Completion: 2023-09-14
• Status Verified: 2023-10
• Last Update Submitted: 2023-10-18
• Last Update Posted: 2023-10-19

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 144

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Whole Body DEXA (dual energy x-ray absorptiometry) scan	baseline only	To assess body proportions of fat, bone, and muscle
Bone Mineral Density - Lumbar Spine	baseline only

Secondary Outcome Measures

Name	Time	Method
Resting energy expenditure	baseline only
Serum Total Testosterone	baseline only
Serum Estrogen	baseline only
Bone Mineral Density - Hip	baseline only
Fasting blood sugar and Oral glucose tolerance test (OGTT)	baseline only

Trial Locations

Locations (1)

Massachusetts General Hospital; 🇺🇸 Boston, Massachusetts, United States