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

Assistance Publique - Hôpitaux de Paris236 enrolled

Overview

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.

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.

Study Type

OBSERVATIONAL

Enrollment

236

Conditions

Dementia With Lewy Bodies

Interventions

Glucocerebrosidase

Eligibility

Sex: ALLMin age: 50 YearsHealthy volunteers:

Medical Language ↔ Plain English

Inclusion Criteria for patients : * Male or female aged ≥ 50 years old * Presence of an accompanying person * Dementia with lewy bodies according to the revised criteria of Mc Keith 2017 Inclusion Criteria for controls: * Male or female aged ≥ 50 years old * Absence of cognitive impairment and clinical element for a neurodegenerative disease Exclusion Criteria for patients: * Other neurodegenerative disease * Gaucher disease Exclusion Criteria for controls: * Neurodegenerative disease * Cognitive impairment of all causes

Outcomes

Primary Outcomes

GCase activity in patients and control by fluorometry

difference in measurement of glucocerebrosidase enzyme activity (by fluorometry method) between DLB patients and control subjects.