Description Module
The Description Module contains narrative descriptions of the clinical trial, including a brief summary and detailed description. These descriptions provide important information about the study's purpose, methodology, and key details in language accessible to both researchers and the general public.
Description Module path is as follows:
Study -> Protocol Section -> Description Module
Description Module
Ignite Creation Date:
2025-12-24 @ 2:03 PM
Ignite Modification Date:
2025-12-24 @ 2:03 PM
NCT ID:
NCT05304195
Brief 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.
Detailed Description:
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:
NCT05304195
Study Brief:
Protocol Section:
NCT05304195