Monoclonal Gammopathy of Undetermined Significance, Myeloma Multiple
Conditions
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.
Interventions
BIOLOGICALEvaluation of the presence and number of mutated alleles of the GBA/PSAP genes in patients with MM or MGUS
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.
Sponsors
University Hospital, Rouen
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Frequency of variants in the GBA/PSAP genes in patients with MM or MGUS | inclusion (one day) | The main aim of the research is to determine the frequency of variants in the GBA/PSAP genes in patients with MM or MGUS. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Plasma concentrations of LGL1 in patients with MM or MGUS | inclusion (one day) | Compare the plasma concentration of LGL1 in MM and MGUS patients versus control individuals |
| Reactivity of monoclonal antibodies in MM and MGUS patients | inclusion (one day) | 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 |
Countries
France
Contacts
CONTACTAbdellah AB TEBANI, Pr
CONTACTSoumeya BEKRI, Pr
Outcome results
None listed