Ignite Creation Date:
2025-12-25 @ 1:24 AM
Ignite Modification Date:
2025-12-25 @ 11:33 PM
Study NCT ID:
NCT03427593
Status:
COMPLETED
Last Update Posted:
2025-10-01
First Post:
2018-01-15
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Severe PID With Lymphoproliferation and Neutropenia
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D000081207', 'term': 'Primary Immunodeficiency Diseases'}, {'id': 'D017074', 'term': 'Common Variable Immunodeficiency'}, {'id': 'D009503', 'term': 'Neutropenia'}, {'id': 'D001327', 'term': 'Autoimmune Diseases'}], 'ancestors': [{'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D007153', 'term': 'Immunologic Deficiency Syndromes'}, {'id': 'D007154', 'term': 'Immune System Diseases'}, {'id': 'D000380', 'term': 'Agranulocytosis'}, {'id': 'D007970', 'term': 'Leukopenia'}, {'id': 'D000095542', 'term': 'Cytopenia'}, {'id': 'D006402', 'term': 'Hematologic Diseases'}, {'id': 'D006425', 'term': 'Hemic and Lymphatic Diseases'}, {'id': 'D007960', 'term': 'Leukocyte Disorders'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D059014', 'term': 'High-Throughput Nucleotide Sequencing'}, {'id': 'D000073359', 'term': 'Exome Sequencing'}], 'ancestors': [{'id': 'D017421', 'term': 'Sequence Analysis'}, {'id': 'D005821', 'term': 'Genetic Techniques'}, {'id': 'D008919', 'term': 'Investigative Techniques'}, {'id': 'D000073336', 'term': 'Whole Genome Sequencing'}, {'id': 'D017422', 'term': 'Sequence Analysis, DNA'}]}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NON_RANDOMIZED', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'BASIC_SCIENCE', 'interventionModel': 'PARALLEL'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 27}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2018-03-13', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-09', 'completionDateStruct': {'date': '2019-12-05', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2025-09-26', 'studyFirstSubmitDate': '2018-01-15', 'studyFirstSubmitQcDate': '2018-02-02', 'lastUpdatePostDateStruct': {'date': '2025-10-01', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2018-02-09', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2018-03-13', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Identification of known mutations by target sequencing of all known genes involved in CVID phenotypes.', 'timeFrame': 'Day 0 (inclusion)', 'description': 'Target-NGS'}, {'measure': 'Identification of new mutations in new genes in CVID by WES (whole exome sequencing) strategy.', 'timeFrame': 'Day 0 (inclusion)', 'description': 'WES (Whole exome sequencing), If no known mutations is founded by T-NGS'}, {'measure': 'Validation or not of a pathological pathway involving CTLA4/LRBA or a related pathway in T-cells. Validation by the mean of functional analysis of T-cells in vitro of CTLA4 expression and response to stimulation. RNA-sequencing in sorted cells.', 'timeFrame': 'Day 0 (inclusion)'}], 'secondaryOutcomes': [{'measure': 'Deciphering of new possible genes involved in the phenotype : Patient without known mutation in genes involved in PID will benefit of an extended analyse of the WES to find a possible condidate genes', 'timeFrame': 'Day 0 (inclusion)', 'description': 'After WES analyses'}]}, 'oversightModule': {'isUsExport': False, 'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['CVID', 'Neutropenia', 'Autoimmunity', 'Lymphoproliferation'], 'conditions': ['Primary Immune-Deficiency (PID) Common Variable Immune Deficiency (CVID)']}, 'referencesModule': {'references': [{'pmid': '28842786', 'type': 'BACKGROUND', 'citation': 'Guffroy A, Mourot-Cottet R, Gerard L, Gies V, Lagresle C, Pouliet A, Nitschke P, Hanein S, Bienvenu B, Chanet V, Donadieu J, Gardembas M, Karmochkine M, Nove-Josserand R, Martin T, Poindron V, Soulas-Sprauel P, Rieux-Laucat F, Fieschi C, Oksenhendler E, Andre-Schmutz I, Korganow AS; DEFI study group. Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe Outcome. J Clin Immunol. 2017 Oct;37(7):715-726. doi: 10.1007/s10875-017-0434-2. Epub 2017 Aug 26.'}]}, 'descriptionModule': {'briefSummary': 'The purpose of this study is to analyse the phenotype in a sub-population of adults with severe primary immunodeficiency with lymphoproliferation and neutropenia and to decipher the possible pathways involved, especially under the hypothesis of a CTLA4/LRBA schema'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria :\n\n* \\>18 years old\n* CVID (Common Variable Immunodeficiency)\n* Neutropenia\n* Lymphoproliferation\n\nExclusion Criteria :\n\n\\- Secondary immunodeficiency'}, 'identificationModule': {'nctId': 'NCT03427593', 'acronym': 'DICEP', 'briefTitle': 'Severe PID With Lymphoproliferation and Neutropenia', 'organization': {'class': 'OTHER', 'fullName': 'University Hospital, Strasbourg, France'}, 'officialTitle': 'Phenotype-genotype Correlation in a Sub-population of Severe Primary Immunodeficiency With Lymphoproliferation and Neutropenia', 'orgStudyIdInfo': {'id': '6642'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'EXPERIMENTAL', 'label': 'Patients', 'description': 'Patients with the phenotype (PID and Neutropenia and lymphoproliferation)', 'interventionNames': ['Genetic: FACS analyses', 'Genetic: Target Sequencing by NGS ( Next-generation sequencing)', 'Genetic: Whole Exome Sequencing']}, {'type': 'OTHER', 'label': 'relatives (parents)', 'interventionNames': ['Genetic: FACS analyses', 'Genetic: Target Sequencing by NGS ( Next-generation sequencing)', 'Genetic: Whole Exome Sequencing']}, {'type': 'SHAM_COMPARATOR', 'label': 'Controls', 'interventionNames': ['Genetic: FACS analyses']}], 'interventions': [{'name': 'FACS analyses', 'type': 'GENETIC', 'description': 'FACS analyses', 'armGroupLabels': ['Controls', 'Patients', 'relatives (parents)']}, {'name': 'Target Sequencing by NGS ( Next-generation sequencing)', 'type': 'GENETIC', 'description': 'Target Sequencing by NGS ( Next-generation sequencing)', 'armGroupLabels': ['Patients', 'relatives (parents)']}, {'name': 'Whole Exome Sequencing', 'type': 'GENETIC', 'description': 'Whole Exome Sequencing', 'armGroupLabels': ['Patients', 'relatives (parents)']}]}, 'contactsLocationsModule': {'locations': [{'zip': '67091', 'city': 'Strasbourg', 'country': 'France', 'facility': "Service d'Immunologie Clinique et VIH - Hôpital Civil", 'geoPoint': {'lat': 48.58392, 'lon': 7.74553}}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Hospital, Strasbourg, France', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}