NCT06559033

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)

• Status: Not Yet Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 300 (estimated)
• Sponsor: University Hospital, Rouen · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

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.

Conditions

• Monoclonal Gammopathy of Undetermined Significance
• Myeloma Multiple

Interventions

Type	Name	Description
BIOLOGICAL	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.

Timeline

• Start date: 2025-06-01
• Primary completion: 2026-10-02
• Completion: 2027-04-01
• First posted: 2024-08-19
• Last updated: 2025-06-03