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

Sponsor

Massachusetts General Hospital (Other)

Overall Status

Active, not recruiting

CT.gov ID

NCT03758651

Collaborator

Williams Syndrome Association (Other)

210

Enrollment

Location

56.9

Anticipated Duration (Months)

3.7

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Williams Syndrome Lipedema

Study Design

Study Type:

Observational

Anticipated Enrollment :

210 participants

Observational Model:

Cohort

Time Perspective:

Cross-Sectional

Official Title:

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

Actual Study Start Date :

Oct 1, 2018

Anticipated Primary Completion Date :

Jun 30, 2022

Anticipated Study Completion Date :

Jun 30, 2023

Arms and Interventions

Arm	Intervention/Treatment
Williams syndrome - Onsite participation Individuals with Williams syndrome who will participate in the study at Massachusetts General Hospital (MGH)
Williams syndrome - Convention participation Individuals with Williams syndrome (WS) who will have a more limited evaluation at a convention focusing on WS, such as the WS Association convention.
Williams syndrome - Remote participation Individuals with Williams syndrome (WS) who will participate in the study remotely by filling out a questionnaire and providing information by mail.
Healthy Controls Healthy individuals without Williams syndrome who will participate in the study at the Massachusetts General Hospital

Outcome Measures

Primary Outcome Measures

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

Secondary Outcome Measures

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

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years to 70 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

For those participating in-person at Massachusetts General Hospital:

Inclusion Criteria

Male or Female age 18-70 years old
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)
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)
Availability of a parent or guardian to provide selected medical information (WS only)

Exclusion Criteria

History of weight loss surgery or liposuction
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.