Идёт набор NCT06559033

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

— Наблюдательное Monoclonal Gammopathy of Undetermined Significance Myeloma Multiple

Ориентир для пациента и семьи

Простыми словами

Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.

Что изучают: В протоколе указаны: Evaluation of the presence and number of mutated alleles of the GBA/PSAP genes in patients with MM or MGUS.
Кому может быть актуально: Состояния в реестре: Monoclonal Gammopathy of Undetermined Significance, Myeloma Multiple. Базовые параметры: от 18 лет · Все.
Что важно проверить: Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
Где проводится: Франция
Следующий шаг: Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →

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Официальное название

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

Обзор

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.

Подробное описание

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.

Вмешательства

Биопрепарат 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.

Первичные конечные точки

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

Вторичные конечные точки (2)

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

Критерии участия

Критерии включения

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