Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease

Recruiting

• Conditions: Gaucher Disease
• Interventions: Other: no intervention

• Registration Number: NCT05843552
• Lead Sponsor: University of Minnesota

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2023-03-31
• Study First Submitted QC: 2023-04-24
• Study Start: 2023-04-30
• Study First Posted: 2023-05-06
• Status Verified: 2025-01
• Last Update Submitted: 2025-01-04
• Last Update Posted: 2025-01-07
• Primary Completion: 2025-06-30
• Study Completion: 2025-06-30

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 30

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
healthy volunteers	no intervention	-
patients with GD	no intervention	-
obligate carriers	no intervention	-

Primary Outcome Measures

Name	Time	Method
EVs size	3months	Examine EV sizes isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.
EVs content	3months	Examine contents in vesicles isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.
EVs quantity	3months	Examine EV quantities isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.

Trial Locations

Locations (1)

University of Minnesota; 🇺🇸 Minneapolis, Minnesota, United States