NCT05843552 · University of Minnesota
Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease
What this study 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.
View original scientific description
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.
Interventions
OTHER
no intervention
no intervention, this is an observational study
Primary outcome measures
EVs quantity
Time frame: baseline
Examine EV quantities isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.
EVs quantity
Time frame: 3months
Examine EV quantities isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.
EVs size
Time frame: baseline
Examine EV sizes isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.
EVs size
Time frame: 3months
Examine EV sizes isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.
EVs content
Time frame: baseline
Examine contents in vesicles isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.
EVs content
Time frame: 3months
Examine contents in vesicles isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
Inclusion criteria
- 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.
Exclusion criteria
- 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
- Minneapolis, Minnesota
Related conditions & keywords
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Apr 6, 2026 · Source of record for eligibility and locations