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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

236 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-02-17

Study Completion Date

2026-06-30

Brief Summary

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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.

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Detailed Description

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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

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Dementia With Lewy Bodies

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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