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Determine the Frequency of Variants in the GBA/PSAP Genes in Patients With MM or MGUS
Sponsor: University Hospital, Rouen
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.
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)
Key Details
Gender
All
Age Range
18 Years - Any
Study Type
OBSERVATIONAL
Enrollment
300
Start Date
2025-06-01
Completion Date
2027-04-01
Last Updated
2025-06-03
Healthy Volunteers
Yes
Interventions
Evaluation 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.