Gaucher DiseaseNCT05843552
Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease
An observational study of Gaucher Disease, run by University of Minnesota at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 80 years
- Conditions the study is for
- Gaucher Disease
- How many people
- 30 participants
- Where
- 1 siteUnited States
- Study dates
- 14 Aug 2023to 31 Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 80 years
- All sexes
- Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
University of Minnesota
Minneapolis, Minnesota, 55414
Reena Kartha, PhD, MS, 612-626-2436, rvkartha@umn.edu
About this study
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
- Being tested
- no intervention
- Medical subject headings
- Gaucher Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
no interventionOther
no intervention, this is an observational study
| Study group | Role | What they receive |
|---|---|---|
| patients with GD | Not described Receives: Other: no intervention | |
| obligate carriers | Not described Receives: Other: no intervention | |
| healthy volunteers | Not described Receives: Other: no intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
EVs quantity
Examine EV quantities isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.
Measured: baseline
EVs quantity
Examine EV quantities isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.
Measured: 3months
EVs size
Examine EV sizes isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.
Measured: baseline
EVs size
Examine EV sizes isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.
Measured: 3months
EVs content
Examine contents in vesicles isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.
Measured: baseline
EVs content
Examine contents in vesicles isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.
Measured: 3months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 May 2023
- Study start14 Aug 2023
- Primary completion31 Dec 2026 (estimated)
- Study completion31 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Gaucher DiseaseStudies of the same condition, open and under way.
- More trials run by University of MinnesotaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Minnesota
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Reena Kartha, PhD, MS, Principal investigator, University of MinnesotaSubbaya Subramanian, PhD, MS, Principal investigator, University of Minnesota
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05843552
- Sponsor's protocol ID
- EV
- Status last verified
- Apr 2026
- First submitted
- 31 Mar 2023
- Last updated
- 6 Apr 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease
- ClinicalTrials.gov ID
- NCT05843552
- Acronym / sponsor ID
- EV
- Conditions
- Gaucher Disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- University of MinnesotaUniversity, hospital or other
- Study start
- 14 Aug 2023 (actual)
- Primary completion
- 31 Dec 2026 (estimated)
- Study completion
- 31 Dec 2026 (estimated)
- First posted
- 6 May 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| patients with GD | – | Other: no intervention |
| obligate carriers | – | Other: no intervention |
| healthy volunteers | – | Other: no intervention |
Who may qualify
- Ages
- 18 to 80 years
- Sex
- All
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (3 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| no interventionno intervention, this is an observational study | Other | healthy volunteers, obligate carriers, patients with GD |
Primary outcome
EVs quantity
Time frame: baseline
Examine EV quantities isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.
EVs quantity
Time frame: 3months
Examine EV quantities isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.
EVs size
Time frame: baseline
Examine EV sizes isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.
EVs size
Time frame: 3months
Examine EV sizes isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.
EVs content
Time frame: baseline
Examine contents in vesicles isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.
EVs content
Time frame: 3months
Examine contents in vesicles isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Apr 2026.
Related trials for Gaucher Disease
RecruitingObservational study
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
Neurological Regression, Myoclonus
RecruitingObservational study
Parkinson's Disease in Type 1 Gaucher Disease
Parkinson Disease (PD), Type 1 Gaucher Disease
RecruitingObservational study
Oxidative Stress and Inflammatory Biomarkers in Gaucher Disease
Gaucher Disease Type I, Oxidative Stress
Not yet recruitingPhase 1/2
4SCAR-T Therapy Targeting GD2, PSMA and CD276 for Treating Neuroblastoma
Neuroblastoma
Enrolling by invitationObservational study
Genetic Studies of Lysosomal Storage Disorders
Lysosomal Storage Disorders, Gaucher Disease
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Reena Kartha, PhD, MS principal investigator
University of Minnesota
Subbaya Subramanian, PhD, MS principal investigator
University of Minnesota
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Gaucher Disease, run by University of Minnesota at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 6 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Reena Kartha, PhD, MS (612-626-2436, rvkartha@umn.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
EVs quantity (time frame: baseline). The study lists 6 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Apr 2026.