Determine the Frequency of Variants in the GBA/PSAP Genes in Patients With MM or MGUS
GAMY
2 other identifiers
observational
300
0 countries
N/A
Brief 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.
Trial Health
Trial Health Score
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participants targeted
Target at P75+ for all trials
Started Jun 2025
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Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
August 13, 2024
CompletedFirst Posted
Study publicly available on registry
August 19, 2024
CompletedStudy Start
First participant enrolled
June 1, 2025
CompletedPrimary Completion
Last participant's last visit for primary outcome
October 2, 2026
ExpectedStudy Completion
Last participant's last visit for all outcomes
April 1, 2027
June 3, 2025
August 1, 2024
1.3 years
August 13, 2024
May 28, 2025
Conditions
Outcome Measures
Primary Outcomes (1)
Frequency of variants in the GBA/PSAP genes in patients with MM or MGUS
The main aim of the research is to determine the frequency of variants in the GBA/PSAP genes in patients with MM or MGUS.
inclusion (one day)
Secondary Outcomes (2)
Plasma concentrations of LGL1 in patients with MM or MGUS
inclusion (one day)
Reactivity of monoclonal antibodies in MM and MGUS patients
inclusion (one day)
Study Arms (3)
Multiple myeloma (MM) patient group
patients with multiple myeloma (MM) (defined by a clonal proliferation of tumour plasma cells (\>10%), the presence of a monoclonal peak in the serum or urine (excluding non-secretory myeloma) and organ damage secondary to bone marrow invasion)
Monoclonal gammopathy of undetermined significance (MGUS) patient group
patients 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)
Control group
patient with no pathology under study relating to the project
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.
Eligibility Criteria
100 patients with multiple myeloma (MM), 100 patients with monoclonal gammopathy of undetermined significance (MGUS), 100 controls with plasma samples available
You may qualify if:
- 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
You may not qualify if:
- Person deprived of liberty by an administrative or judicial decision or person placed under court protection / sub-guardianship or guardianship
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Biospecimen
DNA (DeoxyriboNucleic Acid) extraction for sequencing of beta-GlucocereBrosidAse (GBA) and ProSAPosin (PSAP) genes.
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
August 13, 2024
First Posted
August 19, 2024
Study Start
June 1, 2025
Primary Completion (Estimated)
October 2, 2026
Study Completion (Estimated)
April 1, 2027
Last Updated
June 3, 2025
Record last verified: 2024-08
Data Sharing
- IPD Sharing
- Will not share