Exploring extracellular vesicles in Gaucher Disease
Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease
This study is trying to see how certain tiny particles in the body behave differently in people with Gaucher Disease compared to healthy individuals to understand their role in communication between cells and possible links to brain inflammation.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 30 (estimated) |
| Ages | 18 Years to 80 Years |
| Sex | All |
| Sponsor | University of Minnesota Academic / other |
| Locations | 1 site (Minneapolis, Minnesota) |
| Trial ID | NCT05843552 on ClinicalTrials.gov |
What this trial studies
This observational study aims to gather preliminary data on how lysosomal dysfunction affects the biogenesis and function of extracellular vesicles (EVs) in Gaucher Disease. The study will investigate the role of EVs in intercellular communication and their potential contribution to neuroinflammation associated with lysosomal storage diseases. By comparing EVs from patients with Gaucher Disease to healthy controls, the research seeks to identify differences in EV size, cargo, and secretion patterns, which may serve as novel biomarkers. The study focuses on untreated patients, obligate carriers, and healthy controls to ensure accurate data collection.
Who should consider this trial
Good fit: Ideal candidates include untreated patients with Gaucher Disease, obligate carriers, and healthy controls aged 18-80 years.
Not a fit: Patients currently undergoing therapy for Gaucher Disease or those with hematological malignancies or uncontrolled comorbid conditions may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to the identification of new biomarkers for Gaucher Disease and improve understanding of its pathophysiology.
How similar studies have performed: While the specific approach of this study may be novel, previous studies have explored the role of extracellular vesicles in other lysosomal storage diseases, indicating potential for success.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Minneapolis, Minnesota
- University of Minnesota — Minneapolis, Minnesota, United States (Recruiting)
Study contacts
- Principal investigator: Reena Kartha, PhD, MS — University of Minnesota
- Study coordinator: Reena Kartha, PhD, MS
- Email: rvkartha@umn.edu
- Phone: 612-626-2436
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.