Study of GBA and PSAP Gene Variants in Adults with Multiple Myeloma or MGUS

What this Trial Is About

Researchers are investigating the links between rare diseases and complex chronic conditions such as Multiple Myeloma MM and Monoclonal Gammopathy of Undetermined Significance MGUS. The study focuses on understanding how alterations in metabolic pathways, especially those involving key biomolecules with many connections, may contribute to these diseases. This approach aims to identify new therapeutic possibilities by detailing the genetic variants related to these conditions. Participants include patients with MM or MGUS and a control group without these conditions. The study evaluates the frequency of variants in the GBA and PSAP genes among these groups by comparing patient data to reference databases. This observational research collects data during a single inclusion visit. Participants will undergo genetic and biological assessments to measure the presence of mutated alleles in the GBAPSAP genes, plasma levels of LGL1, and antibody reactivity. Data collection occurs at one visit, with no treatment administered. Researchers will review these measurements to understand genetic patterns related to MM and MGUS. The study is expected to last until April 2027, with enrollment beginning in October 2025.

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