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Recruiting Observational

Determine the Frequency of Variants in the GBA/PSAP Genes in Patients With MM or MGUS

NCT06559033 · tracked via the Priya Life Science France tracker
Phase
Observational
Started
2025-10-07
Last updated
2026-06-10

Condition(s) studied

Monoclonal Gammopathy of Undetermined SignificanceMyeloma Multiple

Investigational drug(s) / intervention(s)

Evaluation of the presence and number of mutated alleles of the GBA/PSAP genes in patients with MM or MGUS

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.

Study 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

Sex
ALL
Min age
18 Years
Max age
—
Healthy volunteers
Accepted
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

Primary outcome measure(s)

  • 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.

Trial sites (2)

FacilityCityRegionStatus
Centre Henri Becquerel Rouen France Not Yet Recruiting
University Rouen Hospital Rouen France Recruiting
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06559033 on ClinicalTrials.gov ↗ ← All trials in France