Ignite Creation Date:
2025-12-24 @ 5:52 PM
Ignite Modification Date:
2025-12-30 @ 1:36 AM
Study NCT ID:
NCT07175168
Status:
NOT_YET_RECRUITING
Last Update Posted:
2025-09-16
First Post:
2025-09-09
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Prevalence of Translocation Phenotyping in Children With Down Syndrome and Their Parents
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D002869', 'term': 'Chromosome Aberrations'}, {'id': 'D004314', 'term': 'Down Syndrome'}], 'ancestors': [{'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}, {'id': 'D008607', 'term': 'Intellectual Disability'}, {'id': 'D019954', 'term': 'Neurobehavioral Manifestations'}, {'id': 'D009461', 'term': 'Neurologic Manifestations'}, {'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': '"Peripheral blood samples will be collected from children and their parents for cytogenetic (karyotype) analysis. Samples will be processed for standard cytogenetic testing and retained only as required for completion/verification of the cytogenetic analyses. No specimens will be used for future unspecified DNA research or biobanking unless additional ethics approval is obtained and separate written consent is obtained from the participant/parent."'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 230}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'NOT_YET_RECRUITING', 'startDateStruct': {'date': '2025-10-01', 'type': 'ESTIMATED'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-09', 'completionDateStruct': {'date': '2026-12-01', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-09-09', 'studyFirstSubmitDate': '2025-09-09', 'studyFirstSubmitQcDate': '2025-09-09', 'lastUpdatePostDateStruct': {'date': '2025-09-16', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2025-09-16', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2026-10-31', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Prevalence of unbalanced translocation Down syndrome among children with cytogenetically confirmed Down syndrome', 'timeFrame': 'At the time of enrollment (October 2025 - September 2027)', 'description': 'Proportion of enrolled children (0-18 years) with unbalanced translocation identified by standard karyotyping.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Balanced translocation', 'trisomy 21', 'Translocation', 'Down syndrome'], 'conditions': ['Translocation Down Syndrome', 'Chromosomal Abnormalities']}, 'descriptionModule': {'briefSummary': 'This research study will investigate a special type of Down syndrome called translocation Down syndrome. While most children with Down syndrome have an extra copy of chromosome 21, about 3-4% have this extra chromosome material attached to another chromosome, known as a translocation. This form can sometimes be inherited from a parent who carries a balanced translocation.\n\nThe aim of the study is to find out how common translocation Down syndrome is among children with confirmed Down syndrome in Assiut, Egypt, and to check whether their parents are carriers of a balanced translocation. Understanding this will help improve family counseling, estimate the chance of recurrence in future pregnancies, and guide genetic screening and prevention strategies.', 'detailedDescription': "Down syndrome (DS) is the most common chromosomal disorder, occurring in approximately 1 in 700 live births worldwide, and is associated with intellectual disability and multiple congenital anomalies. The majority of cases (about 95%) are due to free trisomy 21, while translocation DS accounts for 3-4% and mosaic DS for 1-2%. Translocation DS occurs when extra chromosome 21 material is attached to another chromosome, commonly chromosome 14 or 22. This form is clinically important because it may be inherited from a balanced translocation carrier parent, which has major implications for recurrence risk, genetic counseling, and family planning.\n\nThis cross-sectional descriptive study will be conducted at Assiut University Children's Hospital, Pediatric Genetics Unit, and Health Insurance Hospital from October 2025 to September 2027. A total of 230 children with cytogenetically confirmed Down syndrome will be included, along with their available parents for karyotyping. Children with free trisomy 21 or mosaicism will be excluded.\n\nData collection will include demographic characteristics, detailed family and medical history, full clinical examination, and cytogenetic analysis of both children and their parents. Baseline investigations such as echocardiography, thyroid function tests, and abdominal ultrasound will be performed to document associated comorbidities.\n\nThe primary outcome is the prevalence of unbalanced translocation among children with Down syndrome. The secondary outcome is the prevalence of balanced translocation carrier status among parents. Data analysis will be performed using SPSS v27 with descriptive and inferential statistics, with significance set at p \\< 0.05.\n\nEthical approval has been obtained from the Assiut University Faculty of Medicine Ethics Committee. Written informed consent will be secured from all parents prior to participation.\n\nThis study is expected to provide valuable local prevalence data on translocation Down syndrome, support genetic counseling efforts, and inform recommendations for parental karyotyping and recurrence risk assessment in Egyptian families affected by Down syndrome."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '18 Years', 'minimumAge': '1 Year', 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': "Children with cytogenetically confirmed Down syndrome attending Assiut University Children's Hospital and Health Insurance Hospital, along with their biological parents for karyotyping.", 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Children aged 0-18 years with confirmed diagnosis of Down syndrome by chromosomal analysis.\n\nAvailability of at least one biological parent willing to undergo chromosomal analysis.\n\nExclusion Criteria:\n\n* Children with Down syndrome due to free trisomy 21 or mosaicism.\n\nIncomplete parental data or refusal of parental participation.'}, 'identificationModule': {'nctId': 'NCT07175168', 'acronym': 'PTP-DS', 'briefTitle': 'Prevalence of Translocation Phenotyping in Children With Down Syndrome and Their Parents', 'organization': {'class': 'OTHER', 'fullName': 'Assiut University'}, 'officialTitle': 'Prevalence of Translocation Phenotyping in Children With Down Syndrome and Their Parents: A Cross-Sectional Study', 'orgStudyIdInfo': {'id': 'DS-TRANSLOC-2025'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Children with Down Syndrome', 'description': "Children (0-18 years) with cytogenetically confirmed Down syndrome, recruited from Assiut University Children's Hospital and Health Insurance Hospital. All participants will undergo full clinical assessment and karyotyping.", 'interventionNames': ['Other: No medical or experimental intervention will be administered']}, {'label': 'Parents of Children with Down Syndrome', 'description': 'Available biological parents of enrolled children will undergo chromosomal analysis (karyotyping) to determine balanced translocation carrier status.', 'interventionNames': ['Other: No medical or experimental intervention will be administered']}], 'interventions': [{'name': 'No medical or experimental intervention will be administered', 'type': 'OTHER', 'description': 'Laboratory procedures (blood sampling for karyotyping, basic investigations such as echocardiography, thyroid function tests, abdominal ultrasound) are part of standard diagnostic assessment, not rese', 'armGroupLabels': ['Children with Down Syndrome', 'Parents of Children with Down Syndrome']}]}, 'contactsLocationsModule': {'centralContacts': [{'name': 'fady bassim fathy, resident', 'role': 'CONTACT', 'email': 'bassimfady@gmail.com', 'phone': '01223011968'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'UNDECIDED'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Assiut University', 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'resident', 'investigatorFullName': 'Fady Bassem', 'investigatorAffiliation': 'Assiut University'}}}}