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

Lipedema Clinical Trial

— SHAAPE  

Official title:

Williams Syndrome SHAAPE STUDY [Strength, Hormones, Activity & Adiposity, DNA Programming, Eating Study]

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03758651
• Other study ID #: 2018P000633
• Status: Completed
• Start date: October 1, 2018
• Est. completion date: September 14, 2023

Study information

• Verified date: October 2023
• Source: Massachusetts General Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 144
• Est. completion date: September 14, 2023
• Est. primary completion date: November 30, 2022
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years to 70 Years

Eligibility

For those participating in-person at Massachusetts General Hospital:

Inclusion Criteria

1. Male or Female age 18-70 years old

2. Diagnosis of Williams syndrome (WS), established by experienced clinician, parent report, or confirmed by genetic testing such as FISH (fluorescent in situ hybridization) or chromosomal microarray (WS only)

3. Availability of a parent or guardian to review details of the study with their family member with WS and participate in the consent process (all WS regardless of age)

4. Availability of a parent or guardian to provide selected medical information (WS only) Exclusion Criteria

1. History of weight loss surgery or liposuction

2. Positive urine pregnancy test (females only)

3. Obesity or abnormal fat distribution due to a known secondary cause (except WS) such as Cushing syndrome, HIV-infection, etc.

Related Conditions & MeSH terms

• Lipedema
• Syndrome
• Williams Syndrome

Locations

Country	Name	City	State
United States	Massachusetts General Hospital	Boston	Massachusetts

Sponsors (2)

Lead Sponsor	Collaborator
Massachusetts General Hospital	Williams Syndrome Association

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Bone Mineral Density - Lumbar Spine		baseline only
Primary	Whole Body DEXA (dual energy x-ray absorptiometry) scan	To assess body proportions of fat, bone, and muscle	baseline only
Secondary	Bone Mineral Density - Hip		baseline only
Secondary	Resting energy expenditure		baseline only
Secondary	Serum Total Testosterone		baseline only
Secondary	Serum Estrogen		baseline only
Secondary	Fasting blood sugar and Oral glucose tolerance test (OGTT)		baseline only