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Exploration of GCase Activity to Identify a Subpopulation Eligible for a Therapeutic Trial in Dementia With Lewy Bodies
Sponsor: Assistance Publique - Hôpitaux de Paris
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.
Official title: Exploration of Glucocerebrosidase Activity to Identify a Subpopulation Eligible for a Therapeutic Trial in Dementia With Lewy Bodies
Key Details
Gender
All
Age Range
50 Years - Any
Study Type
OBSERVATIONAL
Enrollment
236
Start Date
2023-02-17
Completion Date
2026-06
Last Updated
2025-11-20
Healthy Volunteers
Yes
Conditions
Interventions
Glucocerebrosidase
Blood sample (10ml) for GCase activity
GBA gene
Blood sample (10ml) for variants or mutations of the GBA gene
Macrophage biomarkers
Blood sample (20ml) for macrophage biomarkers
Locations (1)
Centre de neurologie Cognitive
Paris, France, France