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

NCT03758651 | Completed

• 1 other identifier: 2018P000633
• Study Type: observational
• Target: 144
• Locations: 1 country
• Sites: 1

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.

Conditions

Williams Syndrome; Lipedema

Keywords

Williams Syndrome; Lipedema; Body Composition; Glucose; Bone Density

Outcome Measures

Primary Outcomes (2)

• 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 Outcomes (5)

• 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

Study Arms (4)

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

Eligibility Criteria

• Age: 18 Years - 70 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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)

You may not qualify if:

• 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.

Sponsors & Collaborators

• Massachusetts General Hospital: lead
• Williams Syndrome Association: collaborator

Study Sites (1)

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

Location

MeSH Terms

Conditions

Williams Syndrome; Lipedema

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Aortic Stenosis, Supravalvular; Aortic Valve Stenosis; Aortic Valve Disease; Heart Valve Diseases; Heart Diseases; Cardiovascular Diseases; Chromosome Disorders; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Connective Tissue Diseases; Skin and Connective Tissue Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Geneticist, MGH and Professor of Pediatrics (Emeritus), Harvard Medical School

Study Record Dates

• First Submitted: November 26, 2018
• First Posted: November 29, 2018
• Study Start: October 1, 2018
• Primary Completion: November 30, 2022
• Study Completion: September 14, 2023
• Last Updated: October 19, 2023

Record last verified: 2023-10

Data Sharing

• IPD Sharing: Will share

Locations

US (1)