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| ID | Type | Description | Link |
|---|---|---|---|
| 2021-A02345-36 | Other Identifier | IDRCB |
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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.
Population: 118 patients and 118 control subjects Act of research: blood test
Objectifs :
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| DLB patients | Dementia with lewy bodies according to the revised criteria of Mc Keith 2017 |
| |
| Control | Absence of cognitive impairment and clinical element for a neurodegenerative disease |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Glucocerebrosidase | Diagnostic Test | Blood sample (10ml) for GCase activity |
|
| Measure | Description | Time Frame |
|---|---|---|
| GCase activity in patients and control by fluorometry | difference in measurement of glucocerebrosidase enzyme activity (by fluorometry method) between DLB patients and control subjects. | through study competion, an average of 1 year |
| Measure | Description | Time Frame |
|---|---|---|
| GBA gene and GCase activity | correlation between the presence of GBA gene mutation and the measurement of glucocerebrosidase enzymatic activity | through study competion, an average of 1 year |
| MMSE score and GCase activity |
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Inclusion Criteria for patients :
Inclusion Criteria for controls:
Exclusion Criteria for patients:
Exclusion Criteria for controls:
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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
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Centre de neurologie Cognitive | Paris | France | 75010 | France |
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| ID | Term |
|---|---|
| D020961 | Lewy Body Disease |
| ID | Term |
|---|---|
| D020734 | Parkinsonian Disorders |
| D001480 | Basal Ganglia Diseases |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
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| ID | Term |
|---|---|
| D005962 | Glucosylceramidase |
| ID | Term |
|---|---|
| D005959 | Glucosidases |
| D006026 | Glycoside Hydrolases |
| D006867 | Hydrolases |
| D004798 | Enzymes |
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GBA gene
| GBA gene | Genetic | Blood sample (10ml) for variants or mutations of the GBA gene |
|
| Macrophage biomarkers | Diagnostic Test | Blood sample (20ml) for macrophage biomarkers |
|
correlation between the measurement of glucocerebrosidase enzymatic activity and MMSE score (Mini-Mental State Examination from 0-severe to 30-normal) of DLB patients
| 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. | 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. | 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. | through study competion, an average of 1 year |
| D009422 | Nervous System Diseases |
| D003704 | Dementia |
| D009069 | Movement Disorders |
| D000080874 | Synucleinopathies |
| D019636 | Neurodegenerative Diseases |
| D019965 | Neurocognitive Disorders |
| D001523 | Mental Disorders |
| D045762 |
| Enzymes and Coenzymes |