ClinicalTrials.gov record NCT05843552

Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Jul 27, 2026

Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
Age18 years old to 80 years old
SexAll
LocationUnited States
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This is a prospective, observational case-control study comparing extracellular vesicles (EVs) from people with Gaucher disease, obligate GBA1 mutation carriers, and age- and gender-matched healthy volunteers. Blood plasma is collected at baseline and again at three months to measure EV quantity, size, and contents. The study aims to explore links between lysosomal dysfunction and EV characteristics and whether EVs could be useful biomarkers.

What it is studying. The study tests whether defects in lysosomal function associated with Gaucher disease or GBA1 carrier status are linked to changes in EV biogenesis, quantity, size, and cargo (including lipids, RNA, proteins and aggregates), and whether those differences relate to neuroinflammation or could serve as biomarkers.

What the researchers hope to learn. Scientific goals: to clarify how lysosomal dysfunction affects EV biogenesis and intercellular communication; to describe differences in EV quantity, size, and molecular cargo (lipids, RNA, proteins and aggregates) between Gaucher patients, carriers, and controls; and to evaluate whether EVs might be useful biomarkers or therapeutic targets for diseases linked to lysosomal dysfunction.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Other
  • no intervention

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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.

Study description and what participation involves

The registry record has no detailed description beyond the summary above.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Attend study visits for blood draws at baseline and again about 3 months later so plasma can be used to isolate and study extracellular vesicles (measuring EV quantity, size, and content). No study treatment or intervention is given (observational only). You must have documentation of GD diagnosis or GBA1 mutation status (or sequencing showing no GBA1 mutation for healthy volunteers).

How the study is structured. A prospective observational case-control design with three groups (patients with Gaucher disease, obligate carriers, and matched healthy volunteers). No experimental treatment is given. Participants provide blood plasma at baseline and at three months; isolated EVs are analyzed for quantity, size, and content and compared between groups.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Gaucher disease

Clinical trials64 trials listed for Gaucher diseaseEvery trial the registry lists for Gaucher disease, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Gaucher disease researchLatest monthly update: September 2026. Includes: Platelet release. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Aug 14, 2023
Primary completion
Dec 31, 2026 (estimated)
Study completion
Dec 31, 2026 (estimated)
Target enrollment
30 participants (estimated)
Last updated on registry
Apr 6, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
University of Minnesota

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

Terms used on this page · explanations by MedicalUpdates.ai

primary objective
The main result the study is designed to measure and report on. Other results, called secondary outcomes, are also collected.
biomarkers
Something measurable in the body, such as a blood test result or an imaging finding, that indicates how a condition or treatment is behaving.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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