Determine the Frequency of Variants in the GBA/PSAP Genes in Patients With MM or MGUS
Determine the Frequency of Variants in the GBA/PSAP Genes in Patients With Multiple Myeloma (MM) or Monoclonal Gammopathy of Undetermined Significance (MGUS)
University Hospital, Rouen
300 participants
Oct 7, 2025
OBSERVATIONAL
Conditions
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.
Eligibility
Inclusion Criteria3
- 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 Criteria1
- Person deprived of liberty by an administrative or judicial decision or person placed under court protection / sub-guardianship or guardianship
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Interventions
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.
Locations(2)
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NCT06559033