Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease

Launched by UNIVERSITY OF MINNESOTA · Apr 24, 2023

Keywords

ClinConnect Summary

This clinical trial is studying Gaucher Disease, a condition caused by problems in lysosomes, which are tiny structures in our cells responsible for breaking down waste. The researchers want to understand how these problems affect the formation and function of small particles called extracellular vesicles (EVs). EVs play a role in how cells communicate with each other, and changes in their size and content could help us learn more about the neurological issues seen in Gaucher Disease. The goal is to discover whether these EVs can be used as new markers for Gaucher Disease and possibly identify new treatment targets.

To participate in this study, individuals must be between 18 and 80 years old. They should either have a confirmed diagnosis of Gaucher Disease, be carriers of the gene mutation, or be healthy controls with no mutation. Participants will not be receiving treatment for Gaucher Disease during the study, and those with certain health conditions or ongoing treatments will not be eligible. If they join, participants can expect to provide samples that will help researchers better understand the differences in EV characteristics between those with Gaucher Disease and healthy individuals. This research could lead to new insights and potential improvements in treatment for those affected by this disease.

Gender

ALL

Eligibility 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.