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| ID | Type | Description | Link |
|---|---|---|---|
| 2022-A00306-37 | Registry Identifier | French Minister |
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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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 |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Evaluation of the presence and number of mutated alleles of the GBA/PSAP genes in patients with MM or MGUS | 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. |
| Measure | Description | Time Frame |
|---|---|---|
| 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) |
| Measure | Description | Time Frame |
|---|---|---|
| Plasma concentrations of LGL1 in patients with MM or MGUS | Compare the plasma concentration of LGL1 in MM and MGUS patients versus control individuals | inclusion (one day) |
| Reactivity of monoclonal antibodies in MM and MGUS patients |
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Inclusion Criteria:
Exclusion Criteria:
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100 patients with multiple myeloma (MM), 100 patients with monoclonal gammopathy of undetermined significance (MGUS), 100 controls with plasma samples available
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Abdellah AB TEBANI, Pr | Contact | 02 32 88 81 24 | +33 | Abdellah.Tebani@chu-rouen.fr |
| Soumeya BEKRI, Pr | Contact | 02 32 88 81 24 | +33 | soumeya.bekri@chu-rouen.fr |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Centre Henri Becquerel | Not yet recruiting | Rouen | 76000 | France |
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DNA (DeoxyriboNucleic Acid) extraction for sequencing of beta-GlucocereBrosidAse (GBA) and ProSAPosin (PSAP) genes.
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Assess the % (proportion of patients with reactivity (% reactivity greater than 0) and those without (% reactivity equal to 0)) of reactivity of monoclonal antibodies from MM and MGUS patients to LGL1
| inclusion (one day) |
| University Rouen Hospital | Recruiting | Rouen | 76031 | France |
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| ID | Term |
|---|---|
| D008998 | Monoclonal Gammopathy of Undetermined Significance |
| D009101 | Multiple Myeloma |
| ID | Term |
|---|---|
| D006942 | Hypergammaglobulinemia |
| D001796 | Blood Protein Disorders |
| D006402 | Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D010265 | Paraproteinemias |
| D007160 | Immunoproliferative Disorders |
| D007154 | Immune System Diseases |
| D054219 | Neoplasms, Plasma Cell |
| D009370 | Neoplasms by Histologic Type |
| D009369 | Neoplasms |
| D020141 | Hemostatic Disorders |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D006474 | Hemorrhagic Disorders |
| D008232 | Lymphoproliferative Disorders |
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