Status:
COMPLETED
Williams Syndrome Strength, Hormones, Activity & Adiposity, DNA Programming, Eating Study
Lead Sponsor:
Massachusetts General Hospital
Collaborating Sponsors:
Williams Syndrome Association
Conditions:
Williams Syndrome
Lipedema
Eligibility:
All Genders
18-70 years
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 follo...
Eligibility Criteria
Inclusion
- 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.
Exclusion
Key Trial Info
Start Date :
October 1 2018
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
September 14 2023
Estimated Enrollment :
144 Patients enrolled
Trial Details
Trial ID
NCT03758651
Start Date
October 1 2018
End Date
September 14 2023
Last Update
October 19 2023
Active Locations (1)
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1
Massachusetts General Hospital
Boston, Massachusetts, United States, 02114