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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03758651
Recruitment Status : Recruiting
First Posted : November 29, 2018
Last Update Posted : November 30, 2018
Sponsor:
Collaborators:
Lipedema Foundation
Williams Syndrome Association
Information provided by (Responsible Party):
Barbara R. Pober, Massachusetts General Hospital

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.

Condition or disease
Williams Syndrome Lipedema

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Study Type : Observational
Estimated Enrollment : 210 participants
Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: Williams Syndrome SHAAPE STUDY [Strength, Hormones, Activity & Adiposity, DNA Programming, Eating Study]
Actual Study Start Date : October 1, 2018
Estimated Primary Completion Date : June 30, 2021
Estimated Study Completion Date : June 30, 2021

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Hormones

Group/Cohort
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



Primary Outcome Measures :
  1. Bone Mineral Density - Lumbar Spine [ Time Frame: baseline only ]
  2. Whole Body DEXA (dual energy x-ray absorptiometry) scan [ Time Frame: baseline only ]
    To assess body proportions of fat, bone, and muscle


Secondary Outcome Measures :
  1. Bone Mineral Density - Hip [ Time Frame: baseline only ]
  2. Resting energy expenditure [ Time Frame: baseline only ]
  3. Serum Total Testosterone [ Time Frame: baseline only ]
  4. Serum Estrogen [ Time Frame: baseline only ]
  5. Fasting blood sugar and Oral glucose tolerance test (OGTT) [ Time Frame: baseline only ]


Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 70 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Dr. Pober and colleagues plan to include 30 individuals with Williams syndrome (WS) who participate at Massachusetts General Hospital, along with 25-30 matched control individuals, as well as 50 individuals with WS who participate at conventions related to WS, and 100 individuals with WS who participate remotely.
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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03758651


Contacts
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Contact: Barbara Pober, MD 617-726-1561 pober.barbara@mgh.harvard.edu
Contact: Takara Stanley, MD 617-726-5312 tstanley@partners.org

Locations
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United States, Massachusetts
Massachusetts General Hospital Recruiting
Boston, Massachusetts, United States, 02114
Contact: Takara Stanley, MD         
Principal Investigator: Barbara Pober, MD         
Sponsors and Collaborators
Massachusetts General Hospital
Lipedema Foundation
Williams Syndrome Association

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Responsible Party: Barbara R. Pober, Geneticist, MGH and Professor of Pediatrics (Emeritus), Harvard Medical School, Massachusetts General Hospital
ClinicalTrials.gov Identifier: NCT03758651    
Other Study ID Numbers: 2018P000633
First Posted: November 29, 2018    Key Record Dates
Last Update Posted: November 30, 2018
Last Verified: November 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: A limited and de-identified dataset may be available to other researchers at the conclusion of the study.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Barbara R. Pober, Massachusetts General Hospital:
Williams Syndrome
Lipedema
Body Composition
Glucose
Bone Density
Additional relevant MeSH terms:
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Williams Syndrome
Lipedema
Syndrome
Disease
Pathologic Processes
Connective Tissue Diseases
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Aortic Stenosis, Supravalvular
Aortic Valve Stenosis
Heart Valve Diseases
Heart Diseases
Cardiovascular Diseases
Chromosome Disorders
Congenital Abnormalities
Genetic Diseases, Inborn
Hormones
Hormones, Hormone Substitutes, and Hormone Antagonists
Physiological Effects of Drugs