Recruiting NCT06559033

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

— Observational Monoclonal Gammopathy of Undetermined Significance Myeloma Multiple

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied: The protocol lists: Evaluation of the presence and number of mutated alleles of the GBA/PSAP genes in patients with MM or MGUS.
Who it may be relevant to: Registry conditions: Monoclonal Gammopathy of Undetermined Significance, Myeloma Multiple. Basic parameters: from 18 years · All.
What needs checking: Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place: France
Next step: Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

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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)

Overview

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.

Interventions

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.

Primary outcome measures

Frequency of variants in the GBA/PSAP genes in patients with MM or MGUS [Time frame: inclusion (one day)]

Secondary outcome measures (2)

Plasma concentrations of LGL1 in patients with MM or MGUS [Time frame: inclusion (one day)]
Reactivity of monoclonal antibodies in MM and MGUS patients [Time frame: inclusion (one day)]

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

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: Yes

Study design

Observational model: Cohort

Study locations

France · 2 centers

Centre Henri Becquerel — Rouen
University Rouen Hospital — Rouen

Identifiers

NCT: NCT06559033 · 2020/0430/OB · 2022-A00306-37

Primary sources (government registries)

ClinicalTrials.gov (US NIH)

View this study on ClinicalTrials.gov ↗