跳至主要内容
临床试验/NCT06559033
NCT06559033招募中不适用

Determine the Frequency of Variants in the GBA/PSAP Genes in Patients With Multiple Myeloma (MM) or Monoclonal Gammopathy of Undetermined Significance (MGUS)

University Hospital, Rouen2 个研究点 分布在 1 个国家目标入组 300 人开始时间: 2025年10月7日最近更新:
适应症
干预措施
相关药物

试验速览

阶段
不适用
状态
招募中
发起方
入组人数
300
试验地点
2
主要终点
Frequency of variants in the GBA/PSAP genes in patients with MM or MGUS

研究概览

简要总结

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.

详细描述

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.

研究设计

研究类型
Observational
观察模型
Cohort
时间视角
Prospective

入排标准

年龄范围
18 Years 至 —(Adult, Older Adult)
性别
All
接受健康志愿者

入选标准

  • 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

排除标准

  • Person deprived of liberty by an administrative or judicial decision or person placed under court protection / sub-guardianship or guardianship

研究组 & 干预措施

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)

干预措施: Evaluation of the presence and number of mutated alleles of the GBA/PSAP genes in patients with MM or MGUS (Biological)

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)

干预措施: Evaluation of the presence and number of mutated alleles of the GBA/PSAP genes in patients with MM or MGUS (Biological)

Control group

patient with no pathology under study relating to the project

干预措施: Evaluation of the presence and number of mutated alleles of the GBA/PSAP genes in patients with MM or MGUS (Biological)

结局指标

主要结局

Frequency of variants in the GBA/PSAP genes in patients with MM or MGUS

时间窗: 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.

次要结局

  • 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))

研究者

发起方
University Hospital, Rouen
申办方类型
Other
责任方
Sponsor

研究点 (2)

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