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

NCT ID: NCT06559033

Last Updated: 2025-06-03

Basic Information

• Recruitment Status: NOT_YET_RECRUITING
• Total Enrollment: 300 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2025-06-01
• Study Completion Date: 2027-04-01

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.

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

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

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)

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

Intervention Type: BIOLOGICAL

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.

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)

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

Intervention Type: BIOLOGICAL

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.

Control group

patient with no pathology under study relating to the project

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

Intervention Type: BIOLOGICAL

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.

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.

Intervention Type: BIOLOGICAL

Other Intervention Names

Evaluation of plasma concentrations of LGL1 in patients with MM or MGUS compared to controls; Evaluation of the % Reactivity of plasma immunoglobulins from patients with MM or MGUS towards LGL1

Eligibility Criteria

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

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

University Hospital, Rouen

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Central Contacts

Abdellah AB TEBANI, Pr

Role: CONTACT

Abdellah.Tebani@chu-rouen.fr

02 32 88 81 24 ext. +33

Soumeya BEKRI, Pr

Role: CONTACT

soumeya.bekri@chu-rouen.fr

02 32 88 81 24 ext. +33

Other Identifiers

2022-A00306-37

Identifier Type: REGISTRY

Identifier Source: secondary_id

2020/0430/OB

Identifier Type: -

Identifier Source: org_study_id