Ignite Creation Date:
2025-12-24 @ 11:51 PM
Ignite Modification Date:
2026-06-24 @ 10:56 PM
Study NCT ID:
NCT02180451
Status:
UNKNOWN
Last Update Posted:
2016-03-25
First Post:
2014-06-09
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Observational Study to Investigate the Melatonin and Cortisol Circadian Rhythms of Individuals With Smith-Magenis Syndrome (SMS)
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D058496', 'term': 'Smith-Magenis Syndrome'}], 'ancestors': [{'id': 'D021081', 'term': 'Chronobiology Disorders'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D000015', 'term': 'Abnormalities, Multiple'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D025063', 'term': 'Chromosome Disorders'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Melatonin and Cortisol samples will be collected'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 8}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'ACTIVE_NOT_RECRUITING', 'startDateStruct': {'date': '2014-06'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2016-03', 'completionDateStruct': {'date': '2017-01', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2016-03-24', 'studyFirstSubmitDate': '2014-06-09', 'studyFirstSubmitQcDate': '2014-06-30', 'lastUpdatePostDateStruct': {'date': '2016-03-25', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2014-07-02', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2017-01', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Circadian melatonin rhythm as measured by plasma melatonin', 'timeFrame': '36-hour blood sampling on week 1'}, {'measure': 'Circadian melatonin rhythm as measured by plasma melatonin', 'timeFrame': '36-hour blood sampling on week 2'}, {'measure': 'Circadian melatonin rhythm as measured by plasma melatonin', 'timeFrame': '36-hour blood sampling on week 4'}, {'measure': 'Circadian cortisol rhythms as measured by plasma cortisol', 'timeFrame': '36-hour blood sampling at week 1'}, {'measure': 'Circadian cortisol rhythms as measured by plasma cortisol', 'timeFrame': '36-hour blood sampling at week 2'}, {'measure': 'Circadian cortisol rhythms as measured by plasma cortisol', 'timeFrame': '36-hour blood sampling at week 4'}, {'measure': 'Circadian analytes rhythms as measured in plasma', 'timeFrame': '36-hour blood sampling at week 1'}, {'measure': 'Circadian analytes rhythms as measured in plasma', 'timeFrame': '36-hour blood sampling at week 2'}, {'measure': 'Circadian analytes rhythms as measured in plasma', 'timeFrame': '36-hour blood sampling at week 4'}], 'secondaryOutcomes': [{'measure': 'Genetic testing to confirm SMS diagnosis', 'timeFrame': 'blood sampling at screening visit'}, {'measure': 'Nighttime and daytime sleep as measured by actigraphy', 'timeFrame': 'Four week evaluation period'}, {'measure': 'QOL Scale', 'timeFrame': 'Four week evaluation period'}, {'measure': 'Melatonin Light Response Test (MLRT)', 'timeFrame': 'After four week evaluation period'}, {'measure': 'Behavioral Scale', 'timeFrame': 'Four week evaluation period'}, {'measure': 'Salivary melatonin and cortisol', 'timeFrame': 'Four week evaluation period'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'conditions': ['Smith Magenis Syndrome']}, 'descriptionModule': {'briefSummary': 'The purpose of this study is to characterize the circadian rhythm disruption experienced by patients as determined by plasma melatonin, cortisol, and other circadian analytes'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '50 Years', 'minimumAge': '6 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Smith-Magenis patients', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* A confirmed clinical diagnosis of SMS with a prior positive genetic test result as indicated by a parent/guardian\n* Informed consent from the patient or the legal guardian/assent provided by the individual with SMS, when possible\n* Male or female between the ages of 6-50 years of age\n* History of sleep disturbances\n* Willing and able to comply with study requirements and restrictions\n\nExclusion Criteria:\n\n* Failure to confirm diagnosis of SMS by molecular cytogenetic methods and/or DNA-based mutation analysis of the RAI1 gene\n* Totally blind with no light perception\n* Institutionalized or living in an assisted living facility\n* Unwilling or unable to follow medication restrictions (medications that affect sleep or melatonin secretion) or unwilling or unable to sufficiently wash-out from use of a restricted medication\n* Any medical condition, as determined by the clinical investigator that would make it unsafe for blood draws (e.g., anemia, blood clotting disorders, anxiety, etc.)\n* Any other sound medical reason as determined by the clinical investigator'}, 'identificationModule': {'nctId': 'NCT02180451', 'briefTitle': 'Observational Study to Investigate the Melatonin and Cortisol Circadian Rhythms of Individuals With Smith-Magenis Syndrome (SMS)', 'organization': {'class': 'INDUSTRY', 'fullName': 'Vanda Pharmaceuticals'}, 'officialTitle': 'Observational Study to Investigate the Melatonin and Cortisol Circadian Rhythms of Individuals With Smith-Magenis Syndrome (SMS)', 'orgStudyIdInfo': {'id': 'VP-1401'}}, 'contactsLocationsModule': {'locations': [{'city': 'Baltimore', 'state': 'Maryland', 'country': 'United States', 'geoPoint': {'lat': 39.29038, 'lon': -76.61219}}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Vanda Pharmaceuticals', 'class': 'INDUSTRY'}, 'responsibleParty': {'type': 'SPONSOR'}}}}