Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease

Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 18
Maximum Age: 80
View:

• 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.

Locations
United States
Minnesota
University of Minnesota
RECRUITING
Minneapolis
Contact Information
Primary
Reena Kartha, PhD, MS
rvkartha@umn.edu
612-626-2436
Backup
Marcia Terluk, PhD
mrterluk@umn.edu
612-625-7972
Time Frame
Start Date: 2023-04-30
Estimated Completion Date: 2026-03-31
Participants
Target number of participants: 30
Treatments
patients with GD
obligate carriers
healthy volunteers
Related Therapeutic Areas
Sponsors
Leads: University of Minnesota

This content was sourced from clinicaltrials.gov