Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease

Part of paid clinical trials in Minneapolis, Minnesota.

Sponsor
University of Minnesota
Study ID
NCT05843552
Status
Recruiting
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Conditions

  • Gaucher Disease

Eligibility Criteria

Sex
ALL
Age
18 Years - 80 Years
Healthy Volunteers
Not accepted

Interventions

  • no intervention — OTHER
    no intervention, this is an observational study

Study Details

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 Dates

Start date
Aug 14, 2023
Status verified
Apr 2026
Primary completion
Dec 31, 2026
Completion
Dec 31, 2026

Study Design

Enrollment
30 participants (estimated)

Arms

  • Arm: patients with GD
  • Arm: obligate carriers
  • Arm: healthy volunteers

Primary Outcome Measure

EVs quantity [ Time Frame: baseline ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
University of MinnesotaMinneapolisMinnesota55414
Reena Kartha, PhD, MS
[email protected]
612-626-2436

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By research site
University of Minnesota· Minneapolis, MN

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