Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease

NCT05843552 | Recruiting

• 1 other identifier: EV
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

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.

Conditions

Gaucher Disease

Outcome Measures

Primary Outcomes (6)

• EVs quantity

  Examine EV quantities isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.

  baseline

• EVs quantity

  Examine EV quantities isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.

  3months

• EVs size

  Examine EV sizes isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.

  baseline

• EVs size

  Examine EV sizes isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.

  3months

• EVs content

  Examine contents in vesicles isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.

  baseline

• EVs content

  Examine contents in vesicles isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.

  3months

Study Arms (3)

patients with GD

Other: no intervention

obligate carriers

Other: no intervention

healthy volunteers

Other: no intervention

Interventions

no intervention OTHER

no intervention, this is an observational study

healthy volunteers; obligate carriers; patients with GD

Eligibility Criteria

• Age: 18 Years - 80 Years
• Sex: all
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

patients with GD (n=10 untreated), obligate carriers (n=10) and healthy volunteers (frequency matched for age and gender; n=10) for this study. In the next phase of this project, we will examine the effect of GD treatment on EV characteristics by focusing on patients who are currently being treated and compare various therapies and correlate it with established biomarkers.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• University of Minnesota: lead

Study Sites (1)

University of Minnesota

Minneapolis, Minnesota, 55414, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

fasting blood samples will be collected. One sample will be collected during first visit for genotyping and will be shipped to commercial lab as per their protocol. Remaining samples will be processed immediately to separate plasma, which will be snap frozen and shipped to University of Minnesota for further analysis.

MeSH Terms

Conditions

Gaucher Disease

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Reena Kartha, PhD, MS

  University of Minnesota

  PRINCIPAL INVESTIGATOR

• Subbaya Subramanian, PhD, MS

  University of Minnesota

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Reena Kartha, PhD, MS

CONTACT

612-626-2436; rvkartha@umn.edu

Marcia Terluk, PhD

CONTACT

612-625-7972; mrterluk@umn.edu

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 31, 2023
• First Posted: May 6, 2023
• Study Start: April 30, 2023
• Primary Completion: March 31, 2026
• Study Completion: March 31, 2026
• Last Updated: August 1, 2025

Record last verified: 2025-07

Locations

US (1)