Ignite Creation Date:
2025-12-25 @ 3:33 AM
Ignite Modification Date:
2025-12-26 @ 2:15 AM
Study NCT ID:
NCT02723305
Status:
COMPLETED
Last Update Posted:
2022-03-08
First Post:
2016-03-24
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Cardiometabolic Profiles of Boys With Klinefelter Syndrome
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D007713', 'term': 'Klinefelter Syndrome'}, {'id': 'D007006', 'term': 'Hypogonadism'}], 'ancestors': [{'id': 'D058533', 'term': 'Sex Chromosome Disorders of Sex Development'}, {'id': 'D012734', 'term': 'Disorders of Sex Development'}, {'id': 'D014564', 'term': 'Urogenital Abnormalities'}, {'id': 'D052776', 'term': 'Female Urogenital Diseases'}, {'id': 'D005261', 'term': 'Female Urogenital Diseases and Pregnancy Complications'}, {'id': 'D000091642', 'term': 'Urogenital Diseases'}, {'id': 'D052801', 'term': 'Male Urogenital Diseases'}, {'id': 'D025064', 'term': 'Sex Chromosome Disorders'}, {'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'}, {'id': 'D006058', 'term': 'Gonadal Disorders'}, {'id': 'D004700', 'term': 'Endocrine System Diseases'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITHOUT_DNA', 'description': 'Plasma'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 31}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2016-05'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2022-03', 'completionDateStruct': {'date': '2017-12', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2022-03-04', 'studyFirstSubmitDate': '2016-03-24', 'studyFirstSubmitQcDate': '2016-03-24', 'lastUpdatePostDateStruct': {'date': '2022-03-08', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2016-03-30', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2017-12', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'VO2 peak', 'timeFrame': 'baseline', 'description': 'The primary outcome will be peak oxygen consumption (VO2 peak) during exercise on a bicycle ergometer'}], 'secondaryOutcomes': [{'measure': 'Body composition', 'timeFrame': 'baseline', 'description': 'Percent body fat by dual-energy x-ray absorptiometry'}, {'measure': 'Liver fat', 'timeFrame': 'baseline', 'description': 'Intrahepatic fat by abdominal magnetic resonance imaging'}, {'measure': 'Muscle mitochondrial metabolism', 'timeFrame': 'baseline', 'description': 'Rate of mitochondrial phosphorylation by 31-phosphorus magnetic resonance spectroscopy of the calf muscles'}, {'measure': 'Insulin sensitivity', 'timeFrame': 'baseline', 'description': 'oral disposition index with Glucola'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['Klinefelter syndrome', 'XXY', 'Sex chromosome aneuploidy', 'sex chromosome variation', 'hypogonadism', 'cardiometabolic', 'body composition', 'exercise capacity'], 'conditions': ['Klinefelter Syndrome', '47,XXY', 'Sex Chromosome Aneuploidy', 'XXY Syndrome']}, 'referencesModule': {'references': [{'pmid': '32542985', 'type': 'DERIVED', 'citation': 'Davis SM, DeKlotz S, Nadeau KJ, Kelsey MM, Zeitler PS, Tartaglia NR. High prevalence of cardiometabolic risk features in adolescents with 47,XXY/Klinefelter syndrome. Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):327-333. doi: 10.1002/ajmg.c.31784. Epub 2020 Jun 16.'}]}, 'descriptionModule': {'briefSummary': "This study plans to learn more about how to measure the way the the body's energy system works in boys with Klinefelter syndrome, including the heart, lungs, muscles, and liver. This is important to know so that investigators understand how hormones and an extra X chromosome relate to diseases such as diabetes, extra weight gain, heart disease and liver diseases.", 'detailedDescription': 'Klinefelter syndrome (KS) is the most common chromosomal abnormality in males and is associated with primary gonadal failure in adolescence and a high morbidity and mortality from cardiovascular-related diseases (CVD) in adulthood. Recent studies in children and adolescent boys with KS have found a high prevalence of CVD risk markers, however the underlying mechanisms have not been explored. Our central hypothesis is that pubertal boys with KS have relative testosterone deficiency resulting in abnormal energy metabolism that predisposes them to later CVD, and that exogenous testosterone will modify these abnormalities.\n\nIn this study, investigators will measure markers of cardiometabolic risk in pubertal boys with KS.'}, 'eligibilityModule': {'sex': 'MALE', 'stdAges': ['CHILD'], 'maximumAge': '17 Years', 'minimumAge': '12 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'The study will enroll 10 youth with 47,XXY who will be subdivided into 2 groups:\n\n1. Testosterone naïve (no exogenous testosterone within the past 5 years)\n2. Testosterone exposed (topical testosterone treatment for at least 1 year but no more than 2 years) Most subjects will be recruited at the completion of a monitored, double-blind randomized controlled trial ongoing at our institution. Additional subjects may be recruited to meet enrollment goals.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Male, 47,XXY karyotype (non-mosaic)\n* Age 12-17 years\n* Tanner stage 3-5 pubic hair\n* T naïve group only: No exogenous androgen exposure within the past 5 years\n* T exposed group only: currently on topical testosterone, with duration of treatment between 1-2 years.\n\nExclusion Criteria:\n\n* Cognitive, psychiatric, or physical impairment resulting in inability to tolerate the study procedures\n* MRI incompatible metal\n* Diagnosis of type 1 or type 2 diabetes\n* Hypertension greater than 140/90 mm/Hg at rest (would make exercise studies unsafe)\n* Weight \\> 300 lbs (limit for DEXA)\n* Testosterone treatment for \\<1 year or \\>2 years'}, 'identificationModule': {'nctId': 'NCT02723305', 'briefTitle': 'Cardiometabolic Profiles of Boys With Klinefelter Syndrome', 'organization': {'class': 'OTHER', 'fullName': 'University of Colorado, Denver'}, 'officialTitle': 'Cardiometabolic Profiles of Pubertal Boys With Klinefelter Syndrome With or Without One Year of Exogenous Testosterone Treatment', 'orgStudyIdInfo': {'id': '16-0248'}, 'secondaryIdInfos': [{'id': 'UL1TR001082', 'link': 'https://reporter.nih.gov/quickSearch/UL1TR001082', 'type': 'NIH'}]}, 'armsInterventionsModule': {'armGroups': [{'label': 'Testosterone Naive', 'description': 'Boys with Klinefelter syndrome age 12-17 who are Tanner 3, 4, or 5. No exogenous testosterone exposure in the past 5 years', 'interventionNames': ['Other: No intervention']}, {'label': 'Testosterone exposed', 'description': 'Boys with Klinefelter syndrome age 12-17 who are Tanner 3, 4, or 5.\n\n+topical testosterone treatment for \\>1 year', 'interventionNames': ['Other: No intervention']}], 'interventions': [{'name': 'No intervention', 'type': 'OTHER', 'armGroupLabels': ['Testosterone Naive', 'Testosterone exposed']}]}, 'contactsLocationsModule': {'locations': [{'zip': '80045', 'city': 'Aurora', 'state': 'Colorado', 'country': 'United States', 'facility': "Children's Hospital Colorado", 'geoPoint': {'lat': 39.72943, 'lon': -104.83192}}], 'overallOfficials': [{'name': 'Shanlee M Davis, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': "University of Colorado/Children's Hospital Colorado"}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University of Colorado, Denver', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}