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Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease

NCT05843552 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 30

Last updated 2026-04-06

No results posted yet for this study

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.

Conditions

  • Gaucher Disease

Interventions

OTHER

no intervention

no intervention, this is an observational study

Sponsors & Collaborators

Principal Investigators

  • Reena Kartha, PhD, MS · University of Minnesota

  • Subbaya Subramanian, PhD, MS · University of Minnesota

Eligibility

Min Age
18 Years
Max Age
80 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-08-14
Primary Completion
2026-12-31
Completion
2026-12-31

Countries

  • United States

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05843552 on ClinicalTrials.gov