Williams Syndrome Strength, Hormones, Activity & Adiposity, DNA Programming, Eating Study
| Status: | Recruiting |
|---|---|
| Conditions: | Other Indications |
| Therapuetic Areas: | Other |
| Healthy: | No |
| Age Range: | 18 - 70 |
| Updated: | 12/1/2018 |
| Start Date: | October 1, 2018 |
| End Date: | June 30, 2021 |
| Contact: | Barbara Pober, MD |
| Email: | pober.barbara@mgh.harvard.edu |
| Phone: | 617-726-1561 |
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.
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.
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.
We found this trial at
1
site
185 Cambridge Street
Boston, Massachusetts 02114
Boston, Massachusetts 02114
617-724-5200
Principal Investigator: Barbara Pober, MD
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