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

NCT03758651 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 144

Last updated 2023-10-19

No results posted yet for this study

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

Sponsors & Collaborators

  • Williams Syndrome Association

    collaborator UNKNOWN

  • Massachusetts General Hospital

    lead OTHER

Eligibility

Min Age
18 Years
Max Age
70 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2018-10-01
Primary Completion
2022-11-30
Completion
2023-09-14

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03758651 on ClinicalTrials.gov