Exploring extracellular vesicles in Gaucher Disease
Official title: Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease
Run by University of Minnesota · NCT05843552 · Data updated 2026-11-12
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 |
|---|---|
| Ages | 18 Years to 80 Years |
| Sex | All |
| Enrollment | 30 (estimated) |
| Sponsor | University of Minnesota Academic / other |
| Locations | 1 site (Minneapolis, Minnesota) |
| Status | Recruiting |
| Started | August 14, 2023 |
| Main results expected | December 31, 2026 |
| Study ends | December 31, 2026 |
| Registry record updated | April 6, 2026 |
| Trial ID | NCT05843552 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include untreated patients with Gaucher Disease, obligate carriers, and healthy controls aged 18-80 years.
✕Probably 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.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: 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.
Who can join: the full rules
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 it's running
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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
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Gaucher Disease: Following Patients on Standard Care to See How It Progresses
This study will observe people with Gaucher disease who are receiving standard care to see how their condition changes over time and to explore the biology behind persistent or worsening disease.
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Prevalence of Acid Sphingomyelinase Deficiency and Gaucher Disease in Patients with Monoclonal Gammopathies
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Ambroxol for people with Gaucher disease or GBA-related Parkinson's disease
This project tests whether ambroxol is safe and may help people with Gaucher disease or Parkinson's disease caused by GBA gene changes.
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Long-term observation of rare genetic brain disorders
This study is tracking how rare genetic brain disorders progress over time to better understand their effects on patients.
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Registry for patients with Gaucher Disease
This study is collecting information from people with Gaucher Disease to see how well different treatments work and to learn more about the disease over time.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.