Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease
Recruiting now
Conditions studied: Gaucher Disease
In brief
This is an observational study intended to generate preliminary data to understand how lysosomal dysfunction can affect the biogenesis of extracellular vesicles, its content and function. The primary objective of the proposed project is to decipher how extracellular vesicle (EV) biogenesis and its role in intercellular communication can be impaired as a consequence of defects in lysosomal function. Collectively these defects in EV biogenesis and function can contribute to the neuroinflammation observed in lysosomal storage diseases. Since EVs can cross the blood-brain barrier, their characterization may be valuable in identifying novel biomarkers. In the presence of a GBA1 mutation, the decrease in GCase activity will lower overall lysosome function and increase the secretion of EVs. Further, there will be differences in EV size, its cargo including lipids, RNA and proteins and their aggregates. In comparison to healthy controls, EVs isolated from patients with Gaucher disease (GD) and GBA1 carriers is hypothesized to show significant differences in terms of its characteristics and content, which can contribute to our understanding of the link between lysosomes and neurological disease.
Key facts
- Study ID
- NCT05843552
- Run by
- University of Minnesota
- People needed
- 30
- Starts
- 2023-08-14
- Expected to finish
- 2026-12-31
- Last updated by the study team
- 2026-04-06
Who can join
Age: 18 and older, up to 80. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- Age between 18-80yrs
- Restricted to participants who are untreated, obligate carriers and healthy controls.
- Participants with GD should have confirmed GD diagnosis, mutation confirmed for carriers and healthy controls confirmed to have no GBA1 mutation by gene sequencing.
You may not qualify if…
- Exclude participants who have any hematological malignancy or other uncontrolled comorbid conditions.
- Exclude participants who are currently on therapy for their GD
- Exclude participants who have any hematological malignancy or other uncontrolled comorbid conditions.
Where it is running
- University of Minnesota — Minneapolis, Minnesota, United States (enrolling)
Full record on ClinicalTrials.gov
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