Ignite Creation Date:
2025-12-24 @ 11:39 PM
Ignite Modification Date:
2025-12-25 @ 9:30 PM
Study NCT ID:
NCT04658251
Status:
RECRUITING
Last Update Posted:
2022-05-17
First Post:
2020-12-01
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Study of New Mutations in Cone Disorders
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D000071700', 'term': 'Cone-Rod Dystrophies'}, {'id': 'D000077765', 'term': 'Cone Dystrophy'}, {'id': 'D008268', 'term': 'Macular Degeneration'}, {'id': 'D058499', 'term': 'Retinal Dystrophies'}], 'ancestors': [{'id': 'D015785', 'term': 'Eye Diseases, Hereditary'}, {'id': 'D005128', 'term': 'Eye Diseases'}, {'id': 'D012162', 'term': 'Retinal Degeneration'}, {'id': 'D012164', 'term': 'Retinal Diseases'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Blood samples:\n\n* Paxgen tubes (2 x 5ml) and heparin tubes (2 x 7ml) will be collected (maximum 32 ml) for RNA extraction if the candidate gene is expressed in the leucocytes\n* Potentially 2 Vacutainer CPT tubes for IPSC generation\n\nBiopsy:\n\nPotentially a skin biopsy (3 mm diameter) will be carried out if the gene is not expressed in leucocytes'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 20}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2021-03-03', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2022-05', 'completionDateStruct': {'date': '2026-03', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2022-05-16', 'studyFirstSubmitDate': '2020-12-01', 'studyFirstSubmitQcDate': '2020-12-07', 'lastUpdatePostDateStruct': {'date': '2022-05-17', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2020-12-08', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2026-03', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Effect of the intronic variant on RNA splicing observed in cellulo and/or on patient cells,', 'timeFrame': 'at 2 years', 'description': 'Analysis of RNA transcripts of the gene carrying a variant of unknown significance.'}], 'secondaryOutcomes': [{'measure': 'Effect of the intronic variant on RNA by Minigene splice assay in transient cell cultures', 'timeFrame': 'at 2 years'}, {'measure': 'Effect of the intronic variant on RNA by analysis of patient RNA transcripts', 'timeFrame': 'at 2 years'}, {'measure': 'Effect of the intronic variant on RNA by analysis of transcripts from fibroblasts', 'timeFrame': 'at 2 years'}, {'measure': 'Effect of the intronic variant on RNA by analysis of transcripts from lymphoblastoid lines', 'timeFrame': 'at 2 years'}, {'measure': 'Effect of the intronic variant on RNA by analysis of transcripts from IPSCs (induced pluripotent stem cells)', 'timeFrame': 'at 2 years'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['intronic variant', 'splicing', 'functional test', 'cone disorders', 'retinal dystrophy', 'RNA', 'minigene splice assay', 'cells'], 'conditions': ['Retinal Dystrophy, Cone-Rod', 'Cone Dystrophy', 'Cone Rod Dystrophy', 'Macular Degeneration']}, 'descriptionModule': {'briefSummary': 'High throughput sequencing gives the opportunity to improve the genetic diagnosis for patients suffering from retinal dystrophies and specially from cone disorders. However, a large number of mutations are identified, mostly in introns of the genes, and in silico analysis are not sufficient to assign the pathogenicity of these mutations, without which the diagnosis confirmation cannot be done. For that purpose, a functional analysis of intronic variants of unknown significance detected in patients, with minigene splice assays in parallel with the analysis of the effect of the variant on splicing directly in the cells of the patient, by analyzing the RNA from leucocytes, fibroblasts, lymphoblastoïd cells or precursor of photoreceptor cells, which is the only proof of pathogenicity for variants'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '3 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patients carrying an intronic variant of unknown significance (or carrying an exonic variant with a predicted effect on splicing) in a gene implicated (or potentially implicated) in cone disorders, will be included in the study.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* clinical diagnosis of cone disorder\n* identification of a variant of unknown significance\n* possibility of samplings\n* informed consent\n\nExclusion Criteria:\n\n* no variant of unknown significance identified\n* no informed consent'}, 'identificationModule': {'nctId': 'NCT04658251', 'acronym': 'INTROCONE', 'briefTitle': 'Study of New Mutations in Cone Disorders', 'organization': {'class': 'OTHER', 'fullName': 'University Hospital, Lille'}, 'officialTitle': 'Functional Study of Intronic Variants in Inherited Cone Disorders', 'orgStudyIdInfo': {'id': '2020_66'}, 'secondaryIdInfos': [{'id': '2020-A02559-30', 'type': 'OTHER', 'domain': 'ID-RCB number,ANSM'}]}, 'armsInterventionsModule': {'armGroups': [{'label': 'Patients with an intronic variant unknown in a gene implicated in cone disorders.', 'interventionNames': ['Genetic: Blood and/or skin biopsy']}], 'interventions': [{'name': 'Blood and/or skin biopsy', 'type': 'GENETIC', 'description': 'Blood and/or skin biopsy will be withdrawn, for RNA extraction in order to test the effect of the variant on splicing.', 'armGroupLabels': ['Patients with an intronic variant unknown in a gene implicated in cone disorders.']}]}, 'contactsLocationsModule': {'locations': [{'zip': '59037', 'city': 'Lille', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'role': 'CONTACT', 'phone': '0320445962'}], 'facility': 'CHU lille', 'geoPoint': {'lat': 50.63391, 'lon': 3.05512}}], 'centralContacts': [{'name': 'Claire-Marie DHAENENS, MD', 'role': 'CONTACT', 'email': 'claire-marie.dhaenens@chru-lille.fr', 'phone': '0320445962', 'phoneExt': '+33'}], 'overallOfficials': [{'name': 'Claire-Marie DHAENENS, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'University Hospital, Lille'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Hospital, Lille', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}