Ignite Creation Date:
2025-12-24 @ 7:22 PM
Ignite Modification Date:
2025-12-27 @ 1:05 PM
Study NCT ID:
NCT05767203
Status:
RECRUITING
Last Update Posted:
2023-03-14
First Post:
2023-02-07
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Genetic Markers and Biomarkers in Patients With Intellectual Disabilities of Genetic Origin
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D004314', 'term': 'Down Syndrome'}, {'id': 'D008607', 'term': 'Intellectual Disability'}], 'ancestors': [{'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'}, {'id': 'D012816', 'term': 'Signs and Symptoms'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}, {'id': 'D065886', 'term': 'Neurodevelopmental Disorders'}, {'id': 'D001523', 'term': 'Mental Disorders'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NA', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'BASIC_SCIENCE', 'interventionModel': 'SINGLE_GROUP'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 2000}}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2022-09-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2023-03', 'completionDateStruct': {'date': '2032-12-31', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2023-03-01', 'studyFirstSubmitDate': '2023-02-07', 'studyFirstSubmitQcDate': '2023-03-01', 'lastUpdatePostDateStruct': {'date': '2023-03-14', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2023-03-14', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2032-09-01', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Identification of biomarkers in blood', 'timeFrame': '10 years', 'description': 'Analysis of biomarkers from blood samples taken during the visit'}, {'measure': 'Identification of biomarkers from skin samples', 'timeFrame': '10 years', 'description': 'Analysis of biomarkers from skin samples taken during the visit'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Down Syndrome', 'Intellectual Disability']}, 'descriptionModule': {'briefSummary': 'Analyze genetic and biological markers in patients with Intellectual Deficiencies (ID) of genetic origin in order to better understand the mechanisms of modified genes, cellular mechanisms, pathways involved in different disorders , complications and pathologies associated with ID of genetic origin.', 'detailedDescription': 'Blood and skin samples will be taken from patients coming at the outpatients clinic of the Institut Jérôme Lejeune and who consent to participate to the study. Search and identification of markers will be then done from the collected samples.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Patient diagnosed with an intellectual disability of genetic origin\n* Patient of all ages coming for consultation at the Institut Jérôme Lejeune\n* Patient whose parents or legal representative have received and understood the information document and signed the informed consent for a sample for the research project.\n* Patient affiliated to a social security scheme\n\nExclusion Criteria:\n\n* Parents unable to find out about the constraints related to the study\n* Refusal of informed patient participation\n* Pregnant, parturient and nursing mothers\n* Persons deprived of their liberty by judicial or administrative decision'}, 'identificationModule': {'nctId': 'NCT05767203', 'acronym': 'BioJeL', 'briefTitle': 'Genetic Markers and Biomarkers in Patients With Intellectual Disabilities of Genetic Origin', 'organization': {'class': 'OTHER', 'fullName': 'Institut Jerome Lejeune'}, 'officialTitle': 'Search for Genetic Markers and Biomarkers to Follow Patients With Intellectual Disabilities of Genetic Origin and to Understand Its Origin and Associated Comorbidities', 'orgStudyIdInfo': {'id': 'BioJeL'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'Patients with Down syndrome or other Intellectual deficiency of genetic origin', 'description': 'Patients with Down syndrome or with other intellectual deficiency of genetic origin followed at the outpatients clinic of the Institut Jérôme Lejeune.', 'interventionNames': ['Other: Biological samplings']}], 'interventions': [{'name': 'Biological samplings', 'type': 'OTHER', 'description': 'Blood and/or skin samples', 'armGroupLabels': ['Patients with Down syndrome or other Intellectual deficiency of genetic origin']}]}, 'contactsLocationsModule': {'locations': [{'zip': '75015', 'city': 'Paris', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Sophie Durand', 'role': 'CONTACT', 'email': 'sophie.durand@institutlejeune.org', 'phone': '+33156586300'}], 'facility': 'Institut Jérôme Lejeune', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}], 'centralContacts': [{'name': 'Sophie Durand', 'role': 'CONTACT', 'email': 'sophie.durand@institutlejeune.org', 'phone': '+33156586300'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'UNDECIDED'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Institut Jerome Lejeune', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}