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NCT Number: NCT05843552

Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease

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.

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Key information

Conditions

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

Age range

18 year–80 year

Sex eligibility

All sexes

Study type

Observational

Primary location

University of Minnesota

Minneapolis, Minnesota, 55414, United States

Location status: Recruiting

Location contact

Reena Kartha, PhD, MS

CONTACT

[email protected]

612-626-2436

Who can participate

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

No intervention

Other

no intervention, this is an observational study

Primary outcomes

  1. EVs quantity

    Time frame: baseline

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

  2. EVs quantity

    Time frame: 3months

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

  3. EVs size

    Time frame: baseline

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

  4. EVs size

    Time frame: 3months

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

  5. 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.

  6. 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.

Study contacts

Contact information is provided by the study sponsor or research team.

Marcia Terluk, PhD

CONTACT

[email protected]

612-625-7972

Reena Kartha, PhD, MS

CONTACT

[email protected]

612-626-2436

Sponsors and collaborators

Lead sponsor

University of Minnesota

Other

Registry information

Important dates

Study start
2023
Primary completion
2026
Study completion
2026
First posted
May 6, 2023
Registry last updated
Apr 6, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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