Study of Extracellular Vesicles as Biomarkers and Treatment Targets in Gaucher Disease in Adults Aged 18 to 80

What this Trial Is About

Researchers are investigating how problems with lysosomes, parts of cells that break down waste, affect the creation and function of small particles called extracellular vesicles EVs. These EVs play a role in communication between cells and may contribute to brain inflammation seen in lysosomal storage diseases like Gaucher disease GD. The study focuses on differences in EVs from people with GD, carriers of the GBA1 mutation, and healthy individuals to understand their characteristics and contents. This is an observational study with no intervention, enrolling adults aged 18 to 80 years who are either untreated GD patients, obligate carriers of the GBA1 mutation, or healthy controls confirmed not to have the mutation. The study will compare the quantity, size, and content of EVs at the start and after three months to explore how lysosomal dysfunction influences these particles. Participants will provide samples at baseline and again at three months for analysis of EV characteristics such as amount, size, and cargo including lipids, RNA, and proteins. Researchers aim to identify potential biomarkers by studying EVs that can cross the blood-brain barrier. The study will help clarify links between lysosome function and neurological disease over the study period ending in 2026.

Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease