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

Brief Title

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

Official Title

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

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.

Study Type


Primary Outcome

Bone Mineral Density - Lumbar Spine

Secondary Outcome

 Bone Mineral Density - Hip


Williams Syndrome

Study Arms / Comparison Groups

 Williams syndrome - Onsite participation
Description:  Individuals with Williams syndrome who will participate in the study at Massachusetts General Hospital (MGH)


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment


Start Date

October 1, 2018

Completion Date

June 30, 2023

Primary Completion Date

June 30, 2023

Eligibility Criteria

        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.




18 Years - 70 Years

Accepts Healthy Volunteers

Accepts Healthy Volunteers


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Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID


Responsible Party

Principal Investigator

Study Sponsor

Massachusetts General Hospital


 Williams Syndrome Association

Study Sponsor

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Verification Date

September 2022