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

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

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.

Study Overview

• Status: Completed
• Conditions: Williams Syndrome; Lipedema

• Study Type: Observational
• Enrollment (Actual): 144

Contacts and Locations

Study Locations

• United States
  • Massachusetts
    • Boston, Massachusetts, United States, 02114
      • Massachusetts General Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 70 years (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Dr. Pober and colleagues plan to include 30 individuals with Williams syndrome (WS) who participate at Massachusetts General Hospital, along with 25-30 matched control individuals, as well as 50 individuals with WS who participate at conventions related to WS, and 100 individuals with WS who participate remotely.

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Cross-Sectional

Number of groups / cohorts

4

Cohorts and Interventions

Group / Cohort
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

What is the study measuring?

Primary Outcome Measures

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

Secondary Outcome Measures

Outcome Measure	Time Frame
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

Collaborators and Investigators

• Sponsor: Massachusetts General Hospital
• Collaborators: Williams Syndrome Association

Study record dates

Study Major Dates

• Study Start (Actual): October 1, 2018
• Primary Completion (Actual): November 30, 2022
• Study Completion (Actual): September 14, 2023

Study Registration Dates

• First Submitted: November 26, 2018
• First Submitted That Met QC Criteria: November 28, 2018
• First Posted (Actual): November 29, 2018

Study Record Updates

• Last Update Posted (Actual): October 19, 2023
• Last Update Submitted That Met QC Criteria: October 18, 2023
• Last Verified: October 1, 2023

More Information

Terms related to this study

• Keywords: Body Composition; Glucose; Bone Density; Lipedema; Williams Syndrome
• Additional Relevant MeSH Terms: Pathologic Processes; Heart Diseases; Cardiovascular Diseases; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Disease; Congenital Abnormalities; Genetic Diseases, Inborn; Connective Tissue Diseases; Aortic Valve Disease; Heart Valve Diseases; Intellectual Disability; Chromosome Disorders; Aortic Valve Stenosis; Aortic Stenosis, Supravalvular; Syndrome; Williams Syndrome; Lipedema
• Other Study ID Numbers: 2018P000633

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: A limited and de-identified dataset may be available to other researchers at the conclusion of the study.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No