Ignite Creation Date:
2026-03-26 @ 3:18 PM
Ignite Modification Date:
2026-03-31 @ 4:02 AM
Study NCT ID:
NCT07304193
Status:
ENROLLING_BY_INVITATION
Last Update Posted:
2026-01-08
First Post:
2025-12-12
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Clinical and Genetic Aspects of Fetuses With Sex-chromosome Disorders
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2026-03-25'}, 'conditionBrowseModule': {'meshes': [{'id': 'D025064', 'term': 'Sex Chromosome Disorders'}, {'id': 'D014424', 'term': 'Turner Syndrome'}, {'id': 'D007713', 'term': 'Klinefelter Syndrome'}, {'id': 'C535317', 'term': '47, XYY syndrome'}, {'id': 'C535318', 'term': 'Triple X syndrome'}], 'ancestors': [{'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': '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': 'D006058', 'term': 'Gonadal Disorders'}, {'id': 'D004700', 'term': 'Endocrine System Diseases'}, {'id': 'D007006', 'term': 'Hypogonadism'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Fetal tissue and placental tissue'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'CASE_CONTROL'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 120}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'ENROLLING_BY_INVITATION', 'startDateStruct': {'date': '2024-01-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-12', 'completionDateStruct': {'date': '2029-12-31', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2026-01-06', 'studyFirstSubmitDate': '2025-12-12', 'studyFirstSubmitQcDate': '2025-12-12', 'lastUpdatePostDateStruct': {'date': '2026-01-08', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2025-12-26', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2029-12-31', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'DNA methylation profile', 'timeFrame': '5 years', 'description': 'DNA methylation of placenta DNA methylation across fetal tissues'}, {'measure': 'Gene expression profile', 'timeFrame': '5 years', 'description': 'RNA expression of placenta RNA expression across fetal tissue'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Turner syndrome', 'Klinefelter syndrome', 'XYY syndrome', 'XXX syndrome'], 'conditions': ['Sex Chromosome Disorders']}, 'descriptionModule': {'briefSummary': 'To conduct a comprehensive clinical investigation of electively aborted fetuses with sex chromosome disorders and their placentas, in parallel with analyses of epigenetic alterations and changes in gene expression in these fetuses and their placentas, with the aims to:\n\n1. delineate how variations in sex chromosome number affect the epigenetic and genetic mechanisms regulating gene expression in the placenta and in multiple fetal tissues in fetuses with sex chromosome disorders;\n2. identify the epigenetic and genetic mechanisms and placental and fetal alterations that underlie the phenotypic manifestations observed in fetuses with sex chromosome disorders.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD'], 'maximumAge': '22 Weeks', 'minimumAge': '11 Weeks', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Recruitent of cases will take place at obstetric departments and departments of clinical genetics throughout Denmark.\n\nRecruitment of controls will take place at obstetric departments in the Central Denmark Region.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion criteria cases:\n\n* Age ≥18 years\n* Fetuses with genetically verified sex chromosome disorders\n* Gestational age between 11+0 and 22+6 at the time of abortion or at delivery due to intrauterine fetal death\n* Written informed consent\n\nInclusion criteria cases:\n\n* Age ≥18 years\n* No known sex chromosome disorder or other genetic disorder in the fetus\n* No known fetal malformations\n* Fetal growth within the normal range\n* Gestational age between 11+0 and 22+6 at the time of abortion'}, 'identificationModule': {'nctId': 'NCT07304193', 'briefTitle': 'Clinical and Genetic Aspects of Fetuses With Sex-chromosome Disorders', 'organization': {'class': 'OTHER', 'fullName': 'University of Aarhus'}, 'officialTitle': 'Clinical and Genetic Aspects of Fetuses With Sex-chromosome Disorders', 'orgStudyIdInfo': {'id': '1-10-72-170-23'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Electively aborted fetuses with genetically verified sex chromosome abnormalities'}, {'label': 'Elective aborted health fetuses'}]}, 'contactsLocationsModule': {'locations': [{'zip': '8200', 'city': 'Aarhus', 'country': 'Denmark', 'facility': 'Aarhus University Hospital', 'geoPoint': {'lat': 56.15674, 'lon': 10.21076}}], 'overallOfficials': [{'name': 'Anne Skakkebæk, MD, PHD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Aarhus University Hospital'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University of Aarhus', 'class': 'OTHER'}, 'collaborators': [{'name': 'Aarhus University Hospital', 'class': 'OTHER'}], 'responsibleParty': {'type': 'SPONSOR'}}}}