Ignite Creation Date:
2025-12-25 @ 2:49 AM
Ignite Modification Date:
2025-12-26 @ 1:31 AM
Study NCT ID:
NCT06559033
Status:
NOT_YET_RECRUITING
Last Update Posted:
2025-06-03
First Post:
2024-08-13
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Determine the Frequency of Variants in the GBA/PSAP Genes in Patients With MM or MGUS
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D008998', 'term': 'Monoclonal Gammopathy of Undetermined Significance'}, {'id': 'D009101', 'term': 'Multiple Myeloma'}], 'ancestors': [{'id': 'D006942', 'term': 'Hypergammaglobulinemia'}, {'id': 'D001796', 'term': 'Blood Protein Disorders'}, {'id': 'D006402', 'term': 'Hematologic Diseases'}, {'id': 'D006425', 'term': 'Hemic and Lymphatic Diseases'}, {'id': 'D010265', 'term': 'Paraproteinemias'}, {'id': 'D007160', 'term': 'Immunoproliferative Disorders'}, {'id': 'D007154', 'term': 'Immune System Diseases'}, {'id': 'D054219', 'term': 'Neoplasms, Plasma Cell'}, {'id': 'D009370', 'term': 'Neoplasms by Histologic Type'}, {'id': 'D009369', 'term': 'Neoplasms'}, {'id': 'D020141', 'term': 'Hemostatic Disorders'}, {'id': 'D014652', 'term': 'Vascular Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D006474', 'term': 'Hemorrhagic Disorders'}, {'id': 'D008232', 'term': 'Lymphoproliferative Disorders'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'DNA (DeoxyriboNucleic Acid) extraction for sequencing of beta-GlucocereBrosidAse (GBA) and ProSAPosin (PSAP) genes.'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 300}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'NOT_YET_RECRUITING', 'startDateStruct': {'date': '2025-06-01', 'type': 'ESTIMATED'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2024-08', 'completionDateStruct': {'date': '2027-04-01', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-05-28', 'studyFirstSubmitDate': '2024-08-13', 'studyFirstSubmitQcDate': '2024-08-16', 'lastUpdatePostDateStruct': {'date': '2025-06-03', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2024-08-19', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2026-10-02', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Frequency of variants in the GBA/PSAP genes in patients with MM or MGUS', 'timeFrame': 'inclusion (one day)', 'description': 'The main aim of the research is to determine the frequency of variants in the GBA/PSAP genes in patients with MM or MGUS.'}], 'secondaryOutcomes': [{'measure': 'Plasma concentrations of LGL1 in patients with MM or MGUS', 'timeFrame': 'inclusion (one day)', 'description': 'Compare the plasma concentration of LGL1 in MM and MGUS patients versus control individuals'}, {'measure': 'Reactivity of monoclonal antibodies in MM and MGUS patients', 'timeFrame': 'inclusion (one day)', 'description': 'Assess the % (proportion of patients with reactivity (% reactivity greater than 0) and those without (% reactivity equal to 0)) of reactivity of monoclonal antibodies from MM and MGUS patients to LGL1'}]}, 'oversightModule': {'isUsExport': False, 'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Monoclonal Gammopathy of Undetermined Significance', 'Myeloma Multiple']}, 'descriptionModule': {'briefSummary': 'No effective specific treatment is currently available for the management of Multiple Myeloma (MM) and Monoclonal Gammopathy of Undetermined Significance (MGUS). A better understanding of the pathophysiological mechanisms would make it possible to propose treatments specifically targeting the deregulated pathways.', 'detailedDescription': 'This study will characterise the links between rare diseases and complex, chronic diseases. Metabolism can be visualised as a complex network in which the various biomolecules represent metabolic nodes and are linked together by connections. The number of connections at a node influences the effect of that biomolecule on the metabolic network(s) as a whole. If a biomolecule has a large number of connections, altering a metabolic pathway involving it will have an effect that will spread throughout the network. On the other hand, metabolic pathways with a high flux have a major impact on the homeostasis of the network. Thus, alteration of such a metabolic pathway cannot be without consequence: a major alteration could induce a rare hereditary metabolic disease with an early-onset clinic, whereas an alteration with a moderate effect could participate in the pathogenesis of complex diseases, and may open up new therapeutic prospects for these tumour pathologies.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': '100 patients with multiple myeloma (MM), 100 patients with monoclonal gammopathy of undetermined significance (MGUS), 100 controls with plasma samples available', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Major patients with multiple myeloma (MM) (defined by clonal proliferation of tumour plasma cells (\\>10%), presence of a monoclonal peak in serum or urine (excluding non-secretory myeloma) and organ involvement secondary to bone marrow invasion) or with MGUS (defined as bone marrow plasmacytosis of less than 10%, associated with a monoclonal protein of less than 30g/L and no clinical involvement).\n* Membership of a social security scheme\n* Adult having read and understood the information letter and signed the consent form\n\nExclusion Criteria:\n\n* Person deprived of liberty by an administrative or judicial decision or person placed under court protection / sub-guardianship or guardianship'}, 'identificationModule': {'nctId': 'NCT06559033', 'acronym': 'GAMY', 'briefTitle': 'Determine the Frequency of Variants in the GBA/PSAP Genes in Patients With MM or MGUS', 'organization': {'class': 'OTHER', 'fullName': 'University Hospital, Rouen'}, 'officialTitle': 'Determine the Frequency of Variants in the GBA/PSAP Genes in Patients With Multiple Myeloma (MM) or Monoclonal Gammopathy of Undetermined Significance (MGUS)', 'orgStudyIdInfo': {'id': '2020/0430/OB'}, 'secondaryIdInfos': [{'id': '2022-A00306-37', 'type': 'REGISTRY', 'domain': 'French Minister'}]}, 'armsInterventionsModule': {'armGroups': [{'label': 'Multiple myeloma (MM) patient group', 'description': 'patients with multiple myeloma (MM) (defined by a clonal proliferation of tumour plasma cells (\\>10%), the presence of a monoclonal peak in the serum or urine (excluding non-secretory myeloma) and organ damage secondary to bone marrow invasion)', 'interventionNames': ['Biological: Evaluation of the presence and number of mutated alleles of the GBA/PSAP genes in patients with MM or MGUS']}, {'label': 'Monoclonal gammopathy of undetermined significance (MGUS) patient group', 'description': 'patients with MGUS (defined as bone marrow plasmacytosis of less than 10%, associated with a monoclonal protein of less than 30g/L and no clinical involvement)', 'interventionNames': ['Biological: Evaluation of the presence and number of mutated alleles of the GBA/PSAP genes in patients with MM or MGUS']}, {'label': 'Control group', 'description': 'patient with no pathology under study relating to the project', 'interventionNames': ['Biological: Evaluation of the presence and number of mutated alleles of the GBA/PSAP genes in patients with MM or MGUS']}], 'interventions': [{'name': 'Evaluation of the presence and number of mutated alleles of the GBA/PSAP genes in patients with MM or MGUS', 'type': 'BIOLOGICAL', 'otherNames': ['Evaluation of plasma concentrations of LGL1 in patients with MM or MGUS compared to controls', 'Evaluation of the % Reactivity of plasma immunoglobulins from patients with MM or MGUS towards LGL1'], 'description': 'Estimation of the frequency of variants in the PSAP/GBA genes in patients with MM or MGUS, then comparison with a reference frequency from databases such as the Exome Aggregation Consortium, the Exome Sequencing Project, the 1000 Genomes Project and the dbSNP.', 'armGroupLabels': ['Control group', 'Monoclonal gammopathy of undetermined significance (MGUS) patient group', 'Multiple myeloma (MM) patient group']}]}, 'contactsLocationsModule': {'centralContacts': [{'name': 'Abdellah AB TEBANI, Pr', 'role': 'CONTACT', 'email': 'Abdellah.Tebani@chu-rouen.fr', 'phone': '02 32 88 81 24', 'phoneExt': '+33'}, {'name': 'Soumeya BEKRI, Pr', 'role': 'CONTACT', 'email': 'soumeya.bekri@chu-rouen.fr', 'phone': '02 32 88 81 24', 'phoneExt': '+33'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Hospital, Rouen', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}