Ignite Creation Date:
2025-12-24 @ 12:36 PM
Ignite Modification Date:
2026-01-04 @ 3:45 AM
Study NCT ID:
NCT03268161
Status:
COMPLETED
Last Update Posted:
2018-02-27
First Post:
2017-08-29
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Prevalence of Genetic Mutations in Patients With Neuropathy Associated With Anti-Myelin-associated Glycoprotein (MAG) Antibodies
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Medullary or blood sample stored in a bio-bank during lymphocyte phenotyping'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'RETROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 26}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2015-10-21', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2018-02', 'completionDateStruct': {'date': '2017-11-10', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2018-02-26', 'studyFirstSubmitDate': '2017-08-29', 'studyFirstSubmitQcDate': '2017-08-29', 'lastUpdatePostDateStruct': {'date': '2018-02-27', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2017-08-31', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2017-11-10', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Prevalence of MYD88 L265P mutations in anti-MAG neuropathies', 'timeFrame': "At inclusion : after the patient's given consent", 'description': 'Mutational status of MYD88 L265P is assessed using high-throughput sequencing (HTS) and allele specific polymerase chain reaction (AS-PCR)'}, {'measure': 'Prevalence of CXCR4 Whim-like mutations in anti-MAG neuropathies', 'timeFrame': "At inclusion : after the patient's given consent", 'description': 'Mutational status of CXCR4 is assessed using HTS and AS-PCR'}], 'secondaryOutcomes': [{'measure': 'Immunoglobulin gene rearrangement', 'timeFrame': "At inclusion : after the patient's given consent", 'description': 'Immunoglobulin gene rearrangements are determined with a multiplex PCR'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['anti-MAG neuropathy', 'Waldenström disease', 'Mutational analysis'], 'conditions': ['Neuropathy Demyelinating']}, 'descriptionModule': {'briefSummary': "Anti-MAG (Myelin Associated Glycoprotein) neuropathy is related to clonal B lymphocyte proliferation producing an monoclonal immunoglobulin (IgM) with anti-MAG activity. IgM may be a reflection of malignant lymphoproliferative syndrome (Waldenström disease) or, more often, monoclonal gammopathy of unknown significance.\n\nThe anti-MAG antibody has a direct toxicity on the myelin sheath of the peripheral nervous system responsible for a length-dependent demyelinating polyneuropathy. Clinically, this results in a sensitive, ataxic predominant polyneuropathy in the lower limbs, sometimes associated with a tremor of attitude and action tremor of the upper limbs.\n\nClonal B cells at the origin of IgM production may have acquired mutations affecting MYD88 (MYD88 L265P mutation) and CXCR4 (Whim-like CXCR4 mutation). The prevalence of the MYD88 L265P mutation is estimated to be 50% in monoclonal gammopathies of undetermined significance and more than 80% in Waldenström disease. CXCR4 Whim-like mutations are found in 40% of patients with Waldenström's disease.\n\nNo studies have reported the prevalence of these mutations in patients with anti-MAG neuropathies.", 'detailedDescription': 'This is a retrospective observational study in patients with anti-MAG neuropathy. Mutational analysis will be performed for patients with a medullary or blood sample stored in a bio-bank during lymphocyte phenotyping. This phenotyping was carried out most often in search of a malignant haemopathy associated with the monoclonal peak. No new samples were taken from the patient (blood or spinal cord).\n\nImmunoglobulin gene rearrangement of the clonal B cells are also assessed.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patients with anti-MAG neuropathy followed in the Internal Medicine Ward of the Rennes University Hospital', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Patients with anti-MAG neuropathy\n* Blood and/or bone marrow samples available in bio-bank\n* Given informed consent\n\nExclusion criterion\n\n* Participation refusal'}, 'identificationModule': {'nctId': 'NCT03268161', 'acronym': 'GENOMAG', 'briefTitle': 'Prevalence of Genetic Mutations in Patients With Neuropathy Associated With Anti-Myelin-associated Glycoprotein (MAG) Antibodies', 'organization': {'class': 'OTHER', 'fullName': 'Rennes University Hospital'}, 'officialTitle': 'Observational Study of the Prevalence of Some Genetic Mutations in Patients With Neuropathy Associated With Anti-Myelin-associated Glycoprotein (MAG) Antibodies.', 'orgStudyIdInfo': {'id': '35RC15_3018'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Patients with anti-MAG neuropathy', 'description': 'Mutational analysis of clonal B cells', 'interventionNames': ['Diagnostic Test: Mutational analysis of clonal B cells']}], 'interventions': [{'name': 'Mutational analysis of clonal B cells', 'type': 'DIAGNOSTIC_TEST', 'description': 'Mutational analysis based on medullary or blood samples stored in a bio-bank during routine lymphocyte phenotyping.\n\nMutations affecting MYD88 (MYD88 L265P mutation), CXCR4 (Whim-like CXCR4 mutation) loci are sought.', 'armGroupLabels': ['Patients with anti-MAG neuropathy']}]}, 'contactsLocationsModule': {'locations': [{'zip': '35000', 'city': 'Rennes', 'country': 'France', 'facility': 'Rennes University Hospital', 'geoPoint': {'lat': 48.11109, 'lon': -1.67431}}], 'overallOfficials': [{'name': 'Olivier DECAUX, MD, PhD', 'role': 'STUDY_DIRECTOR', 'affiliation': 'CHU Rennes'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Rennes University Hospital', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}