Ignite Creation Date:
2025-12-24 @ 9:21 PM
Ignite Modification Date:
2026-02-24 @ 8:26 AM
Study NCT ID:
NCT01864304
Status:
COMPLETED
Last Update Posted:
2017-01-10
First Post:
2013-05-10
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Fat Distribution and Glucose Metabolism in Williams Syndrome
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D018980', 'term': 'Williams Syndrome'}], 'ancestors': [{'id': 'D008607', 'term': 'Intellectual Disability'}, {'id': 'D019954', 'term': 'Neurobehavioral Manifestations'}, {'id': 'D009461', 'term': 'Neurologic Manifestations'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D021921', 'term': 'Aortic Stenosis, Supravalvular'}, {'id': 'D001024', 'term': 'Aortic Valve Stenosis'}, {'id': 'D000082862', 'term': 'Aortic Valve Disease'}, {'id': 'D006349', 'term': 'Heart Valve Diseases'}, {'id': 'D006331', 'term': 'Heart Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D025063', 'term': 'Chromosome Disorders'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 24}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2013-12'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2017-01', 'completionDateStruct': {'date': '2016-02', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2017-01-06', 'studyFirstSubmitDate': '2013-05-10', 'studyFirstSubmitQcDate': '2013-05-24', 'lastUpdatePostDateStruct': {'date': '2017-01-10', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2013-05-29', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2016-02', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': '2-hour glucose', 'timeFrame': 'Baseline', 'description': 'Blood glucose concentration two hours after drinking a sugary drink (oral glucose tolerance test)'}], 'secondaryOutcomes': [{'measure': 'Percent body fat', 'timeFrame': 'Baseline', 'description': 'percent body fat as measured by whole body dual-energy xray absorptiometry (DXA) scanning'}, {'measure': 'Low-density lipoprotein cholesterol (LDL)', 'timeFrame': 'Baseline'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['Williams Syndrome'], 'conditions': ['Williams Syndrome']}, 'descriptionModule': {'briefSummary': 'Williams Syndrome (WS) is a genetic syndrome with features that may include vascular stenoses, neuro-developmental changes, and a variety of endocrine and metabolic abnormalities, including impaired glucose metabolism and abnormal body composition. Approximately 75% of adults with WS have impaired glucose tolerance or diabetes on oral glucose tolerance testing (OGTT). In addition, clinical observations and preliminary data suggest increased overall body fat in these individuals, as well as a relative increase in fat deposition in the lower extremities. However, glucose and lipid metabolism in WS remain incompletely characterized. The purpose of the current study is to carefully describe glucose metabolism and lipid parameters in people with WS.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'maximumAge': '70 Years', 'minimumAge': '14 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Children and adults with Williams Syndrome (WS), and "control" individuals without WS.', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria\n\n1. M or F age 14-70yo\n2. Diagnosis of WS confirmed by FISH or chromosomal microarray (WS only)\n3. Availability of a parent or guardian to participate in the consent process (all WS, and controls \\<18yo)\n\nExclusion Criteria\n\n1. History of weight loss surgery or liposuction\n2. Use of weight-lowering drugs\n3. Positive urine pregnancy test (females only)\n4. Obesity or abnormal fat distribution due to a known secondary cause (except WS) such as Cushing syndrome, HIV-infection, etc.\n5. Known diabetes will preclude administration of the OGTT but not participation in other aspects of the study.'}, 'identificationModule': {'nctId': 'NCT01864304', 'briefTitle': 'Fat Distribution and Glucose Metabolism in Williams Syndrome', 'organization': {'class': 'OTHER', 'fullName': 'Massachusetts General Hospital'}, 'officialTitle': 'Characterization of Fat Distribution and Glucose Metabolism in Individuals With and Without Williams Syndrome', 'orgStudyIdInfo': {'id': '2013P000068'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Williams Syndrome', 'description': 'Children and adults with Williams Syndrome'}, {'label': 'Control Group', 'description': 'Controls will be recruited in 2 ways: 1) a gender matched and age- and BMI-similar control for each WS patient, and, 2) sibling controls when available'}]}, 'contactsLocationsModule': {'locations': [{'zip': '02114', 'city': 'Boston', 'state': 'Massachusetts', 'country': 'United States', 'facility': 'Massachusetts General Hospital', 'geoPoint': {'lat': 42.35843, 'lon': -71.05977}}], 'overallOfficials': [{'name': 'Takara Stanley, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Massachusetts General Hospital'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Massachusetts General Hospital', 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Assistant Pediatrician', 'investigatorFullName': 'Takara Stanley, M.D.', 'investigatorAffiliation': 'Massachusetts General Hospital'}}}}