Clinical trial NCT06559033: Determine the Frequency of Variants in the GBA/PSAP Genes in Patients With MM or MGUS
Official title: Determine the Frequency of Variants in the GBA/PSAP Genes in Patients With Multiple Myeloma (MM) or Monoclonal Gammopathy of Undetermined Significance (MGUS)
Study type: OBSERVATIONAL
Overall status: NOT_YET_RECRUITING
Conditions: Monoclonal Gammopathy of Undetermined Significance
Myeloma Multiple
Lead sponsor: University Hospital, Rouen
Sponsor class: OTHER
First posted: 2024-08-19
Enrollment: 300
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: 100 patients with multiple myeloma (MM), 100 patients with monoclonal gammopathy of undetermined significance (MGUS), 100 controls with plasma samples available

Brief summary: 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.

Detailed description: 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.

Eligibility criteria: Inclusion Criteria:

* 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

Exclusion Criteria:

* Person deprived of liberty by an administrative or judicial decision or person placed under court protection / sub-guardianship or guardianship

Primary outcomes:
measure: Frequency of variants in the GBA/PSAP genes in patients with MM or MGUS
timeFrame: inclusion (one day)
Secondary outcomes:
measure: Plasma concentrations of LGL1 in patients with MM or MGUS
timeFrame: inclusion (one day)
measure: Reactivity of monoclonal antibodies in MM and MGUS patients
timeFrame: inclusion (one day)
Other outcomes:
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Study officials:
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