[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT05843552":3,"trial-entities:NCT05843552":91,"trial-summary:NCT05843552":95},{"id":4,"nct_id":4,"org_study_id":5,"brief_title":6,"official_title":6,"overall_status":7,"completion_date":8,"status_verified_date":9,"last_update_date":10,"start_date":11,"sponsor_name":12,"lead_sponsor_class":13,"has_dmc":14,"brief_summary":15,"detailed_description":14,"conditions":16,"keywords":18,"study_type":19,"primary_purpose":14,"phases":20,"enrollment_info":21,"interventions":24,"primary_outcomes":32,"secondary_outcomes":47,"sex":48,"minimum_age":49,"maximum_age":50,"healthy_volunteers":14,"eligibility_criteria":51,"std_ages":60,"locations":63,"central_contacts":78,"overall_officials":84,"references":89,"see_also_links":90},"NCT05843552","EV","Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease","RECRUITING","2026-12-31","2026-04","2026-04-06","2023-08-14","University of Minnesota","OTHER",null,"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.",[17],"Gaucher Disease",[],"OBSERVATIONAL",[],{"count":22,"type":23},30,"ESTIMATED",[25],{"type":13,"name":26,"description":27,"armGroupLabels":28},"no intervention","no intervention, this is an observational study",[29,30,31],"healthy volunteers","obligate carriers","patients with GD",[33,37,39,42,43,46],{"measure":34,"description":35,"timeFrame":36},"EVs quantity","Examine EV quantities isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.","baseline",{"measure":34,"description":35,"timeFrame":38},"3months",{"measure":40,"description":41,"timeFrame":36},"EVs size","Examine EV sizes isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.",{"measure":40,"description":41,"timeFrame":38},{"measure":44,"description":45,"timeFrame":36},"EVs content","Examine contents in vesicles isolated from plasma samples collected from patients with GD and carriers and compare to healthy individuals.",{"measure":44,"description":45,"timeFrame":38},[],"ALL","18 Years","80 Years",{"inclusion":52,"exclusion":56,"raw_text":59},[53,54,55],"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.",[57,58,57],"Exclude participants who have any hematological malignancy or other uncontrolled comorbid conditions.","Exclude participants who are currently on therapy for their GD","Inclusion Criteria:\n\n* Age between 18-80yrs\n* Restricted to participants who are untreated, obligate carriers and healthy controls.\n* Participants with GD should have confirmed GD diagnosis, mutation confirmed for carriers and healthy controls confirmed to have no GBA1 mutation by gene sequencing.\n\nExclusion Criteria:\n\n* Exclude participants who have any hematological malignancy or other uncontrolled comorbid conditions.\n* Exclude participants who are currently on therapy for their GD\n* Exclude participants who have any hematological malignancy or other uncontrolled comorbid conditions.",[61,62],"ADULT","OLDER_ADULT",[64],{"facility":12,"status":7,"city":65,"state":66,"zip":67,"country":68,"contacts":69,"geoPoint":75},"Minneapolis","Minnesota","55414","United States",[70],{"name":71,"role":72,"phone":73,"email":74},"Reena Kartha, PhD, MS","CONTACT","612-626-2436","rvkartha@umn.edu",{"lat":76,"lon":77},44.97997,-93.26384,[79,80],{"name":71,"role":72,"phone":73,"email":74},{"name":81,"role":72,"phone":82,"email":83},"Marcia Terluk, PhD","612-625-7972","mrterluk@umn.edu",[85,87],{"name":71,"affiliation":12,"role":86},"PRINCIPAL_INVESTIGATOR",{"name":88,"affiliation":12,"role":86},"Subbaya Subramanian, PhD, MS",[],[],{"nct_id":4,"conditions":92,"biomarkers":93},[17],[94],"GBA1 Gene",{"nct_id":4,"found":96,"summary":97,"prompt_version":107},true,{"design":98,"status":99,"heading":100,"summary":101,"follow_up":102,"word_count":103,"commitments":104,"compensation":105,"drugs_mentioned":106},"This is an observational study with no intervention, meaning participants will not receive any new treatments. It plans to enroll about 30 participants.","completed","Observational Study of Extracellular Vesicles in Gaucher Disease","This is an observational study looking at Gaucher disease. Researchers want to understand how problems with lysosomes (small parts of cells that break down waste) might affect tiny particles called extracellular vesicles (EVs). They are studying the quantity and size of these EVs in people with Gaucher disease, carriers of the Gaucher gene, and healthy individuals. The goal is to see if changes in EVs could help identify new ways to understand and track Gaucher disease, especially since EVs can cross into the brain. They will measure EV quantity at the start and after 3 months, and EV size at the start. You can join if you are between 18 and 80 years old, have a confirmed Gaucher diagnosis, are a confirmed carrier, or are a healthy control without the GBA1 gene mutation. The study is currently recruiting about 30 participants.","Participants will be followed for at least 3 months, based on the endpoint measurements.",141,"EV quantity will be measured at baseline and again at 3 months. EV size will be measured at baseline.","Not stated in the trial record.",[],"v2"]