Actively Recruiting
Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease
Led by University of Minnesota · Updated on 2026-04-06
30
Participants Needed
1
Research Sites
176 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Age between 18-80 years
- Participants must be untreated patients with Gaucher disease, obligate carriers of the GBA1 mutation, or healthy controls
- Gaucher disease diagnosis must be confirmed for patients
- GBA1 mutation must be confirmed for carriers
- Healthy controls must have no GBA1 mutation confirmed by gene sequencing
You will not qualify if you...
- Participants with any hematological malignancy or other uncontrolled comorbid conditions
- Participants currently receiving therapy for Gaucher disease
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
University of Minnesota
Minneapolis, Minnesota, United States, 55414
Actively Recruiting
Research Team
R
Reena Kartha, PhD, MS
CONTACT
M
Marcia Terluk, PhD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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