Ignite Creation Date:
2025-12-26 @ 10:46 PM
Ignite Modification Date:
2025-12-30 @ 3:54 AM
Study NCT ID:
NCT05696912
Status:
RECRUITING
Last Update Posted:
2024-02-21
First Post:
2022-12-07
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Functional Tests to Resolve Unsolved Rare Diseases. Rares.
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D008607', 'term': 'Intellectual Disability'}, {'id': 'D012415', 'term': 'Rubinstein-Taybi Syndrome'}, {'id': 'D003550', 'term': 'Cystic Fibrosis'}, {'id': 'D006330', 'term': 'Heart Defects, Congenital'}, {'id': 'D054091', 'term': 'Periventricular Nodular Heterotopia'}, {'id': 'D006211', 'term': 'Pantothenate Kinase-Associated Neurodegeneration'}, {'id': 'D000417', 'term': 'Albinism'}], 'ancestors': [{'id': 'D019954', 'term': 'Neurobehavioral Manifestations'}, {'id': 'D009461', 'term': 'Neurologic Manifestations'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D012816', 'term': 'Signs and Symptoms'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}, {'id': 'D065886', 'term': 'Neurodevelopmental Disorders'}, {'id': 'D001523', 'term': 'Mental Disorders'}, {'id': 'D004413', 'term': 'Dysostoses'}, {'id': 'D001848', 'term': 'Bone Diseases, Developmental'}, {'id': 'D001847', 'term': 'Bone Diseases'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}, {'id': 'D019465', 'term': 'Craniofacial Abnormalities'}, {'id': 'D009139', 'term': 'Musculoskeletal Abnormalities'}, {'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': 'D010182', 'term': 'Pancreatic Diseases'}, {'id': 'D004066', 'term': 'Digestive System Diseases'}, {'id': 'D008171', 'term': 'Lung Diseases'}, {'id': 'D012140', 'term': 'Respiratory Tract Diseases'}, {'id': 'D007232', 'term': 'Infant, Newborn, Diseases'}, {'id': 'D018376', 'term': 'Cardiovascular Abnormalities'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D006331', 'term': 'Heart Diseases'}, {'id': 'D054081', 'term': 'Malformations of Cortical Development, Group II'}, {'id': 'D054220', 'term': 'Malformations of Cortical Development'}, {'id': 'D009421', 'term': 'Nervous System Malformations'}, {'id': 'D001480', 'term': 'Basal Ganglia Diseases'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D019150', 'term': 'Neuroaxonal Dystrophies'}, {'id': 'D009069', 'term': 'Movement Disorders'}, {'id': 'D020271', 'term': 'Heredodegenerative Disorders, Nervous System'}, {'id': 'D019636', 'term': 'Neurodegenerative Diseases'}, {'id': 'D015785', 'term': 'Eye Diseases, Hereditary'}, {'id': 'D005128', 'term': 'Eye Diseases'}, {'id': 'D000592', 'term': 'Amino Acid Metabolism, Inborn Errors'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D012873', 'term': 'Skin Diseases, Genetic'}, {'id': 'D017496', 'term': 'Hypopigmentation'}, {'id': 'D010859', 'term': 'Pigmentation Disorders'}, {'id': 'D012871', 'term': 'Skin Diseases'}, {'id': 'D017437', 'term': 'Skin and Connective Tissue Diseases'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NA', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'DIAGNOSTIC', 'interventionModel': 'SINGLE_GROUP', 'interventionModelDescription': 'Ex-vivo approach concerning 25 patients with blood sample in PAXgene tubes or skin biopsy and RNA-Seq analysis.\n\nIn-vitro approach concerning 25 patients without specific samples needed for analysis in minigene or luciferase assay.'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 50}}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2023-01-30', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2024-02', 'completionDateStruct': {'date': '2025-02', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2024-02-20', 'studyFirstSubmitDate': '2022-12-07', 'studyFirstSubmitQcDate': '2023-01-23', 'lastUpdatePostDateStruct': {'date': '2024-02-21', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2023-01-25', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2025-02', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Proportion of VOUS reclassified as pathogenic (class 5) or benign (class 1)', 'timeFrame': 'Inclusion visit', 'description': "It's the proportion of VOUS that could be definitively reclassified as pathogenic (class 5) or benign (class 1) according to the ACMG classification (Richards et al., 2015 and Appendix 1). Indeed currently only variants considered as pathogenic or probably pathogenic make it possible to confirm a diagnosis and to propose genetic offer genetic counseling to families and perform a prenatal diagnosis. This is an evaluation that will be carried out at the end of the analyses carried out"}], 'secondaryOutcomes': [{'measure': 'Pre-analysis process : Time of sample transport to the laboratory', 'timeFrame': 'Inclusion visit', 'description': 'Time of transport to the laboratory. To calculate this time, the time of collection and the time of receipt by the and the time of reception by the molecular genetics technician will be recorded'}, {'measure': 'Pre-analysis process : Quality of RNA extraction (RNA Integrity Number, RIN)', 'timeFrame': 'Inclusion visit', 'description': 'RNA quality measurement by RIN (RNA integrity number): very good \\>7, good \\>/=5, poor \\<5. Only RNA with RIN \\>5 will be retained.'}, {'measure': 'Praticability :Characteristics and number of CPU (Central Processing Unit)', 'timeFrame': 'Inclusion visit', 'description': 'Evaluation of bioinformatic ressources by measure of number of CPU needed and turnaround time for processing data'}, {'measure': 'Praticability : Training time of Biologists for interpretation', 'timeFrame': 'Inclusion visit', 'description': 'Evaluation of training time needed to interpret the data'}, {'measure': 'Global cost', 'timeFrame': 'Inclusion visit', 'description': 'Evaluation of cost of global analyse and each test'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Variant of unknown significance', 'Functional genetics', 'Translational research', 'RNAseq', 'Gene expression regulation'], 'conditions': ['Intellectual Disability', 'Rubinstein-Taybi Syndrome', 'Cystic Fibrosis', 'Congenital Heart Defect', 'Periventricular Nodular Heterotopia', 'Neurodegeneration With Brain Iron Accumulation (NBIA)', 'Albinism']}, 'descriptionModule': {'briefSummary': 'Rares diseases are a heterogeneous group of conditions which need important tools for diagnosis.\n\nThe use of high-throughput sequencing is able to diagnose half of the patients. For the other part it is impossible to conclude due to the presence of variants of unknown significance (VOUS). Functional analysis are needed to bring strong argument to reclassify variants as pathogenic or benign. The main objective is to evaluate the diagnosis yield of this strategy.', 'detailedDescription': 'The main objective is the improvement of the diagnosis of rare genetic diseases. The investigator lab is expert for diagnosis of some rare diseases such as neurodevelopmental disorder, albinism, cystic fibrosis and congenital heart defect. Actually with implementation of high-throughput sequencing for diagnosis, a high number of genetic variants are found and need to be interpretated. The ACMG classification is used to classify variants with argument of variant frequency, predicted effect on protein and in-silico prediction. Functional evidence is a strong argument to help classify VOUS. The investigators propose the use of RNA-Seq, minigene and luciferase assay for study of VOUS to bring argument to classify them as benign or pathogenic.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Minor and adult patient.\n* Registered for the social security system.\n* Informed consent signed by patient or parent of a minor patient.\n* Patient affected by one of the rare diseases studied (albinism, congenital heart defect, cystic fibrosis, neurodevelopmental disease)\n* Patient bearing variants of unknown significance (VOUS)\n\nExclusion Criteria:\n\n* Refusal to participate in research protocol.\n* Patient under administrative supervision\n* Pregnant or nursing women'}, 'identificationModule': {'nctId': 'NCT05696912', 'acronym': 'RID', 'briefTitle': 'Functional Tests to Resolve Unsolved Rare Diseases. Rares.', 'organization': {'class': 'OTHER', 'fullName': 'University Hospital, Bordeaux'}, 'officialTitle': 'Resolving Unsolved Rare Diseases : Functional Tests and New Diagnosis Strategy to Study Genetic Variants From High-throughput Sequencing (RID)', 'orgStudyIdInfo': {'id': 'CHU BX 2021/40'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'OTHER', 'label': 'Ex-vivo and In-vitro approach', 'description': 'Ex-vivo approach concerning 25 patients with blood sample in PAXgene tubes or skin biopsy and RNA-Seq analysis.\n\nIn-vitro approach concerning 25 patients without specific samples needed for analysis in minigene or luciferase assay', 'interventionNames': ['Genetic: Ex-vivo approach concerning 25 patients', 'Genetic: In-vitro approach concerning 25 patients']}], 'interventions': [{'name': 'Ex-vivo approach concerning 25 patients', 'type': 'GENETIC', 'description': 'Ex-vivo approach concerning 25 patients with blood sample in PAXgene tubes or skin biopsy and RNA-Seq analysis', 'armGroupLabels': ['Ex-vivo and In-vitro approach']}, {'name': 'In-vitro approach concerning 25 patients', 'type': 'GENETIC', 'description': 'In-vitro approach concerning 25 patients without specific samples needed for analysis in minigene or luciferase assay', 'armGroupLabels': ['Ex-vivo and In-vitro approach']}]}, 'contactsLocationsModule': {'locations': [{'zip': '33000', 'city': 'Bordeaux', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Vincent MICHAUD, Dr', 'role': 'CONTACT', 'email': 'vincent.michaud@chu-bordeaux.fr'}], 'facility': 'Hopital Pellegrin', 'geoPoint': {'lat': 44.84124, 'lon': -0.58046}}], 'centralContacts': [{'name': 'Vincent MICHAUD', 'role': 'CONTACT', 'email': 'vincent.michaud@chu-bordeaux.fr', 'phone': '+335 57 82 01 93'}, {'name': 'Ndeye-Fatou NGOM', 'role': 'CONTACT', 'email': 'ndeye-fatou.ngom@chu-bordeaux.fr'}], 'overallOfficials': [{'name': 'Vincent MICHAUD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'University Hospital, Bordeaux'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Hospital, Bordeaux', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}