Ignite Creation Date:
2025-12-24 @ 11:35 PM
Ignite Modification Date:
2026-01-02 @ 4:14 AM
Study NCT ID:
NCT05040256
Status:
COMPLETED
Last Update Posted:
2021-11-15
First Post:
2021-05-11
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Neurologic and Immunologic Characteristics of CTLA-4 and LRBA Hereditary Deficiency
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'C563326', 'term': 'Diabetes Mellitus, Insulin-Dependent, 12'}, {'id': 'D000081207', 'term': 'Primary Immunodeficiency Diseases'}, {'id': 'D000090862', 'term': 'Neuroinflammatory Diseases'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D001327', 'term': 'Autoimmune Diseases'}], 'ancestors': [{'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D007153', 'term': 'Immunologic Deficiency Syndromes'}, {'id': 'D007154', 'term': 'Immune System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D007249', 'term': 'Inflammation'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'RETROSPECTIVE', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 20}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2021-02-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2021-11', 'completionDateStruct': {'date': '2021-09-30', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2021-11-12', 'studyFirstSubmitDate': '2021-05-11', 'studyFirstSubmitQcDate': '2021-09-01', 'lastUpdatePostDateStruct': {'date': '2021-11-15', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2021-09-10', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2021-08-01', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Number of Neurologic impairment', 'timeFrame': '1 day', 'description': 'Neurologic signs and symptoms (headaches, seizures…), cerebral MRI features, lumbar puncture, histopathology'}], 'secondaryOutcomes': [{'measure': 'Presence of reccurent infections', 'timeFrame': '1 day', 'description': 'Presence of reccurent infections and type, granulomatous disease, cancer predisposition, immunologic biological tests, type of treatments and effectiveness'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['LRBA deficiency', 'Primary immunodeficiency', 'Neuroinflammation', 'Genetic diseases', 'Autoimmune diseases'], 'conditions': ['CTLA4 Haploinsufficiency']}, 'referencesModule': {'references': [{'pmid': '32955488', 'type': 'RESULT', 'citation': 'Schindler MK, Pittaluga S, Enose-Akahata Y, Su HC, Rao VK, Rump A, Jacobson S, Cortese I, Reich DS, Uzel G. Haploinsufficiency of immune checkpoint receptor CTLA4 induces a distinct neuroinflammatory disorder. J Clin Invest. 2020 Oct 1;130(10):5551-5561. doi: 10.1172/JCI135947.'}, {'pmid': '32499327', 'type': 'RESULT', 'citation': 'Ayrignac X, Goulabchand R, Jeziorski E, Rullier P, Carra-Dalliere C, Lozano C, Portales P, Vincent T, Viallard JF, Menjot de Champfleur N, Rieux-Laucat F, Besnard C, Koenig M, Guissart C, Labauge P, Guilpain P. Two neurologic facets of CTLA4-related haploinsufficiency. Neurol Neuroimmunol Neuroinflamm. 2020 Jun 4;7(4):e751. doi: 10.1212/NXI.0000000000000751. Print 2020 Jul.'}, {'pmid': '25329329', 'type': 'RESULT', 'citation': 'Schubert D, Bode C, Kenefeck R, Hou TZ, Wing JB, Kennedy A, Bulashevska A, Petersen BS, Schaffer AA, Gruning BA, Unger S, Frede N, Baumann U, Witte T, Schmidt RE, Dueckers G, Niehues T, Seneviratne S, Kanariou M, Speckmann C, Ehl S, Rensing-Ehl A, Warnatz K, Rakhmanov M, Thimme R, Hasselblatt P, Emmerich F, Cathomen T, Backofen R, Fisch P, Seidl M, May A, Schmitt-Graeff A, Ikemizu S, Salzer U, Franke A, Sakaguchi S, Walker LSK, Sansom DM, Grimbacher B. Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. Nat Med. 2014 Dec;20(12):1410-1416. doi: 10.1038/nm.3746. Epub 2014 Oct 20.'}]}, 'descriptionModule': {'briefSummary': 'CTLA4 and LRBA deficiencies are rare genetic disorders, recently described, and associated with multiple clinical features. It ranges from recurrent infections, auto-immunity, and organ infiltration with lymphocytes. Neurologic syndroms are described in up to 30% of patients, yet they are poorly defined to date. Early recognition of a specific pattern can be important, given that there is a targeted therapy in this situation.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '12 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patients listed with CTLA4 or LRBA deficiency in the register of the national reference center for primary immunodeficiencies.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion criteria:\n\n\\- Patients diagnosed with CTLA4 or LRBA mutation\n\nExclusion criteria:\n\n\\- Age \\< 12 years'}, 'identificationModule': {'nctId': 'NCT05040256', 'briefTitle': 'Neurologic and Immunologic Characteristics of CTLA-4 and LRBA Hereditary Deficiency', 'organization': {'class': 'OTHER', 'fullName': 'University Hospital, Montpellier'}, 'officialTitle': 'Neurologic and Immunologic Characteristics of CTLA-4 and LRBA Hereditary Deficiency', 'orgStudyIdInfo': {'id': 'RECHMPL21_0290'}}, 'contactsLocationsModule': {'locations': [{'zip': '34295', 'city': 'Montpellier', 'country': 'France', 'facility': 'Uhmontpellier', 'geoPoint': {'lat': 43.61093, 'lon': 3.87635}}], 'overallOfficials': [{'name': 'Xavier Ayrignac, MD', 'role': 'STUDY_DIRECTOR', 'affiliation': 'University Hospital, Montpellier'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'UNDECIDED', 'description': 'NC'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Hospital, Montpellier', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}