NCT05304195

Exploration of GCase Activity to Identify a Subpopulation Eligible for a Therapeutic Trial in Dementia With Lewy Bodies

Exploration of Glucocerebrosidase Activity to Identify a Subpopulation Eligible for a Therapeutic Trial in Dementia With Lewy Bodies

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 236 (estimated)
• Sponsor: Assistance Publique - Hôpitaux de Paris · Academic / Other
• Sex: All
• Age: 50 Years
• Healthy volunteers: Accepted

Summary

This research focuses on the activity of an enzymatic protein: glucocerebrosidase, in dementia with lewy bodies (DLB). Indeed, the mutation of the GBA gene responsible for a decrease in the activity of glucocerebrosidase is the most frequent known genetic risk factor in DLB. However, mutations of the GBA gene are known in another pathology, Gaucher disease, in which treatments have been developed. The objective of this research is to determine if glucocerebrosidase activity is decreased in DLB. This hypothesis could open up a therapeutic perspective, with treatments already used in Gaucher disease.

Detailed description

Population: 118 patients and 118 control subjects Act of research: blood test Objectifs : * Comparison of glucocerebrosidase activity between patients and controls * Search for variants or mutations of the GBA gene and correlation with glucocerebrosidase activity * Correlation between clinical characteristics (UPDRS motor scale, MMSE cognitive scale) and GCase activity in patients * Identification of macrophage abnormalities and the impact of treatments targeting the GBA pathway on the deregulation of biomarkers in patient macrophages.

Conditions

• Dementia With Lewy Bodies

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Glucocerebrosidase	Blood sample (10ml) for GCase activity
GENETIC	GBA gene	Blood sample (10ml) for variants or mutations of the GBA gene
DIAGNOSTIC_TEST	Macrophage biomarkers	Blood sample (20ml) for macrophage biomarkers

Timeline

• Start date: 2023-02-17
• Primary completion: 2026-06-01
• Completion: 2026-06-01
• First posted: 2022-03-31
• Last updated: 2025-11-20

Locations

1 site across 1 country: France