An observational study in Dementia With Lewy Bodies, sponsored by Assistance Publique - Hôpitaux de Paris. Completed at 1 site in France. Open to participants aged 50 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-06-22.
Sponsored by Assistance Publique - Hôpitaux de Paris · Observational
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 :
231 studies on the registry are indexed under Lewy Body Disease; 89 are open to participants now.
This study's enrollment of 236 is below the median of 280 across 83 observational studies indexed under Lewy Body Disease.
Browse Lewy Body Disease studies →Assistance Publique - Hôpitaux de Paris is the lead sponsor of 3,505 studies on the registry; 1,006 are open to participants now.
Counted across the registry records on this site, refreshed daily.
118 patients and 118 control subjects Patients and controls (often an accompanying person) will be selected during a routine visit for the patient's DLB
Inclusion Criteria for patients :
Inclusion Criteria for controls:
Exclusion Criteria for patients:
Exclusion Criteria for controls:
Dementia with lewy bodies according to the revised criteria of Mc Keith 2017
Diagnostic Test: Glucocerebrosidase · Genetic: GBA gene · Diagnostic Test: Macrophage biomarkers
Absence of cognitive impairment and clinical element for a neurodegenerative disease
Diagnostic Test: Glucocerebrosidase · Genetic: GBA gene · Diagnostic Test: Macrophage biomarkers
Blood sample (10ml) for GCase activity
Blood sample (10ml) for variants or mutations of the GBA gene
Blood sample (20ml) for macrophage biomarkers
GCase activity in patients and control by fluorometry
difference in measurement of glucocerebrosidase enzyme activity (by fluorometry method) between DLB patients and control subjects.
Time frame: through study competion, an average of 1 year
GBA gene and GCase activity
correlation between the presence of GBA gene mutation and the measurement of glucocerebrosidase enzymatic activity
Time frame: through study competion, an average of 1 year
MMSE score and GCase activity
correlation between the measurement of glucocerebrosidase enzymatic activity and MMSE score (Mini-Mental State Examination from 0-severe to 30-normal) of DLB patients
Time frame: through study competion, an average of 1 year
motor sub-score of UPDRS score and GCase activity
correlation between the measurement of glucocerebrosidase enzymatic activity and motor sub-score of UPDRS score (motor sub-score of Unified Parkinson Disease Rating Scale from) of DLB patients The score is between 0 and 55. The score increases proportionally to the severity of the extrapyramidal syndrome.
Time frame: through study competion, an average of 1 year
GBA gene and macrophage abnormalities
Correlation between the presence of a GBA gene mutation and abnormal macrophage activation reflecting a specific inflammatory profile and biomarker variation.
Time frame: through study competion, an average of 1 year
Treatment and macrophage biomarkers
Identification of the impact of treatments targeting the GBA pathway on the deregulation of biomarkers in macrophages.
Time frame: through study competion, an average of 1 year
Plan to share: No
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This study is completed, as verified in Jun 2026. You cannot join it, but the record below documents what was studied.
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Assistance Publique - Hôpitaux de Paris