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
N/A
Total Duration
On this page
AI-Summary
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.
CONDITIONS
Brief 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 and 80 years
- Untreated participants with Gaucher disease
- Confirmed Gaucher disease diagnosis for patients
- Mutation confirmed for obligate carriers
- Healthy controls confirmed to have no GBA1 mutation by gene sequencing
You will not qualify if you...
- Currently receiving therapy for Gaucher disease
- Any hematological malignancy or other uncontrolled medical conditions
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 3 months
Participants provide biological samples to measure extracellular vesicles quantity, size, and content.
2 visits (baseline and 3 months)
Trial Site Locations
Total: 1 location
1
University of Minnesota
Minneapolis, Minnesota, United States, 55414
Actively Recruiting
Research Team
R
Reena Kartha, PhD, MS
M
Marcia Terluk, PhD
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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