Ignite Creation Date:
2025-12-24 @ 5:40 PM
Ignite Modification Date:
2026-02-25 @ 5:45 PM
Study NCT ID:
NCT01760668
Status:
COMPLETED
Last Update Posted:
2016-05-24
First Post:
2013-01-02
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D014424', 'term': 'Turner Syndrome'}, {'id': 'D000082882', 'term': 'Bicuspid Aortic Valve Disease'}, {'id': 'D008382', 'term': 'Marfan Syndrome'}, {'id': 'D001014', 'term': 'Aortic Aneurysm'}], 'ancestors': [{'id': 'D006059', 'term': 'Gonadal Dysgenesis'}, {'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': 'D058533', 'term': 'Sex Chromosome Disorders of Sex Development'}, {'id': 'D052801', 'term': 'Male Urogenital Diseases'}, {'id': 'D006330', 'term': 'Heart Defects, Congenital'}, {'id': 'D018376', 'term': 'Cardiovascular Abnormalities'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D006331', 'term': 'Heart Diseases'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D025064', 'term': 'Sex Chromosome Disorders'}, {'id': 'D025063', 'term': 'Chromosome Disorders'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D006058', 'term': 'Gonadal Disorders'}, {'id': 'D004700', 'term': 'Endocrine System Diseases'}, {'id': 'D000082862', 'term': 'Aortic Valve Disease'}, {'id': 'D006349', 'term': 'Heart Valve Diseases'}, {'id': 'D001848', 'term': 'Bone Diseases, Developmental'}, {'id': 'D001847', 'term': 'Bone Diseases'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}, {'id': 'D000015', 'term': 'Abnormalities, Multiple'}, {'id': 'D003240', 'term': 'Connective Tissue Diseases'}, {'id': 'D017437', 'term': 'Skin and Connective Tissue Diseases'}, {'id': 'D000783', 'term': 'Aneurysm'}, {'id': 'D014652', 'term': 'Vascular Diseases'}, {'id': 'D001018', 'term': 'Aortic Diseases'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Aortic tissue\n\nBlood Serum'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 5}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2013-02'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2015-06', 'completionDateStruct': {'date': '2015-10', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2016-05-23', 'studyFirstSubmitDate': '2013-01-02', 'studyFirstSubmitQcDate': '2013-01-02', 'lastUpdatePostDateStruct': {'date': '2016-05-24', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2013-01-04', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2015-10', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Histone modifications', 'timeFrame': 'Cross sectional', 'description': 'Permissive and repressive histone modifications on the X-chromosome'}, {'measure': 'mRNA and non-coding RNAs', 'timeFrame': 'Cross sectional', 'description': 'Identification of the entire transcriptome including both mRNA and non-coding RNAs (lincRNA as well as miRNA)from the X-chromosome'}, {'measure': 'DNA-methylations of CpG-islands', 'timeFrame': 'Cross sectional', 'description': 'mapping DNA-methylations of CpG-islands'}, {'measure': 'Electron microscopic evaluation', 'timeFrame': 'Cross sectional'}, {'measure': 'Karyotyping by FISH and conventional karyotyping', 'timeFrame': 'Cross sectional'}, {'measure': 'Proteomics', 'timeFrame': 'Cross sectional'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['Sex chromosome', 'Turner Syndrome', 'Marfan syndrome', 'Bicuspid aortic valve', 'Aortic Aneurysm', 'Epigenetics', 'Transcriptome', 'non-coding RNA', 'Electron microscopy', 'Proteomics'], 'conditions': ['Turner Syndrome', 'Bicuspid Aortic Valve', 'Marfan Syndrome']}, 'descriptionModule': {'briefSummary': 'The study aim is:\n\n1. To examine aortic tissue by light microscopy\n2. To examine aortic tissue by electron microscopy\n3. To study changes in the epigenome and transcriptome of the X chromosome specific to aortic tissue.\n4. To examine aortic tissue using biochemistry including proteomics.\n5. To establish the karyotype of fibroblasts with standard chromosome examination on 10 meta-phases as well as by fluorescent in situ hybridization (FISH) with probes covering the X and Y chromosome. Using the latter 200 meta-phases will be examined.\n\n30 controls who did not die from aortic dissection or dilation will be recruited from The Department of Forensic Medicine at Aarhus University Hospital.\n\nThe investigators will subject samples of aortic tissue from women undergoing prophylactic aortic surgery due to either Marfan syndrome or bicuspid aortic valve to the same panel of examinations (except karyotyping). Lastly the investigators will compare the results from the three groups (Turner syndrome, Marfan syndrome and Bicuspid aortic valve).', 'detailedDescription': 'Turner syndrome is a congenital complete or partial lack of one of the female sex chromosomes affecting 1 of 2000 live born girls. The syndrome is characterized by an increased prevalence of ischemic heart disease, aortic dilation and dissection, hypertension, stroke and autoimmune diseases in general.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'maximumAge': '90 Years', 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Individuals with Turner syndrome will be recruited from out-patient clinics. Individuals with Turner syndrome, Marfan syndrome and bicuspid aortic valve will be recruited from departments of cardiology or thoracic surgery in Odense, Copenhagen or Aarhus (Denmark).', 'healthyVolunteers': False, 'eligibilityCriteria': 'Turner syndrome (TS).\n\nA. Inclusion\n\n* TS verified by genotyping\n* Age \\> 18 years\n* Awaiting operation due to aortic dilation\n\nB. Exclusion - Previous aortic dissection or operation of the aorta (per-cutaneous or open surgery)\n\nMarfan syndrome (MS)\n\nA. Inclusion\n\n* Females with MS verified clinically or by genotyping\n* Age \\> 18 years\n* Awaiting operation due to aortic dilation\n\nB. Exclusion\n\n\\- Previous aortic dissection or operation of the aorta (per-cutaneous or open surgery)\n\nBicuspid aortic valve\n\nA. Inclusion\n\n* Females with Bicuspid aortic valve\n* Age \\> 18 years\n* Awaiting operation due to aortic dilation\n\nB. Exclusion - Previous aortic dissection or operation of the aorta (per-cutaneous or open surgery)\n\nControls\n\nA. Inclusion\n\n* Men/females who died from conditions other than aortic dilation or dissection.\n* Age 20-60 years.\n\nB. Exclusion\n\n\\- Previous aortic dissection or operation of the aorta (per-cutaneous or open surgery)'}, 'identificationModule': {'nctId': 'NCT01760668', 'briefTitle': 'Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome', 'organization': {'class': 'OTHER', 'fullName': 'University of Aarhus'}, 'officialTitle': 'Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome', 'orgStudyIdInfo': {'id': '1-10-72-561-12'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Turner syndrome (TS)', 'description': 'TS verified by genotyping Age \\> 18 years awaiting operation due to aortic dilation'}, {'label': 'Marfan syndrome (MS)', 'description': 'Females with MS verified clinically or by genotyping Age \\> 18 years awaiting operation due to aortic dilation'}, {'label': 'Bicuspid aortic valve', 'description': 'females with bicuspid aortic valve Age \\> 18 years awaiting operation due to aortic dilation'}, {'label': 'Controls', 'description': 'Men/females who died from conditions other than aortic dilation or dissection. Age 20-60 years.'}]}, 'contactsLocationsModule': {'locations': [{'zip': '8000', 'city': 'Aarhus C', 'country': 'Denmark', 'facility': 'Department of Endocrinology and Internal medicine', 'geoPoint': {'lat': 56.16558, 'lon': 10.21231}}], 'overallOfficials': [{'name': 'Christian Trolle', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Aarhus University Hospital'}, {'name': 'Claus H Gravholt, MD, Ph.d.', 'role': 'STUDY_DIRECTOR', 'affiliation': 'Aarhus University Hospital'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University of Aarhus', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}