Determine the Frequency of Variants in the GBA/PSAP Genes in Patients With MM or MGUS
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorUniversity Hospital, Rouen
About this trial
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.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
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).
Membership of a social security scheme
Adult having read and understood the information letter and signed the consent form
Disqualifiers
Person deprived of liberty by an administrative or judicial decision or person placed under court protection / sub-guardianship or guardianship
Trial population
100 patients with multiple myeloma (MM), 100 patients with monoclonal gammopathy of undetermined significance (MGUS), 100 controls with plasma samples available
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Evaluation of the presence and number of mutated alleles of the GBA/PSAP genes in patients with MM or MGUS
Biological/VaccineEstimation 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.
Treatment groups
300 Participants
are divided into 3 treatment groupsGroup A: Multiple myeloma (MM) patient group1 intervention
Group B: Monoclonal gammopathy of undetermined significance (MGUS) patient group1 intervention
Group C: Control group1 intervention
Trial outcomes
Primary outcomes
1
Frequency of variants in the GBA/PSAP genes in patients with MM or MGUS
The main aim of the research is to determine the frequency of variants in the GBA/PSAP genes in patients with MM or MGUS.
Time frame
inclusion (one day)Secondary outcomes
1
Plasma concentrations of LGL1 in patients with MM or MGUS
Compare the plasma concentration of LGL1 in MM and MGUS patients versus control individuals
Time frame
inclusion (one day)2
Reactivity of monoclonal antibodies in MM and MGUS patients
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
Time frame
inclusion (one day)Sponsors and contacts
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Source ClinicalTrials.gov