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

Study Purpose

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.

Recruitment Criteria

Accepts Healthy Volunteers Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms	Yes
Study Type An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes. An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes. Searching Both is inclusive of interventional and observational studies.	Observational
Eligible Ages	18 Years - 70 Years
Gender	All

More Inclusion & Exclusion 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.

Trial Details

Trial ID: This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries.	NCT03758651
Phase Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans. Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data. Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs. Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use.
Lead Sponsor The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.	Massachusetts General Hospital
Principal Investigator The person who is responsible for the scientific and technical direction of the entire clinical study.	N/A
Principal Investigator Affiliation	N/A
Agency Class Category of organization(s) involved as sponsor (and collaborator) supporting the trial.	Other
Overall Status	Recruiting
Countries	United States
Conditions The disease, disorder, syndrome, illness, or injury that is being studied.	Williams Syndrome, Lipedema

Arms & Interventions

Arms

: 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

Interventions

Contact a Trial Team

If you are interested in learning more about this trial, find the trial site nearest to your location and contact the site coordinator via email or phone. We also strongly recommend that you consult with your healthcare provider about the trials that may interest you and refer to our terms of service below.

Massachusetts General Hospital, Boston, Massachusetts

Status

Recruiting

Address

Massachusetts General Hospital

Boston, Massachusetts, 02114

Site Contact

Takara Stanley, MD

[email protected]

617-726-1561

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