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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
2025-10-07
Completion Date
2027-04-01
Last Updated
2026-06-10
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.
Locations (2)
Centre Henri Becquerel
Rouen, France
University Rouen Hospital
Rouen, France