Exploration of Glucocerebrosidase Activity to Identify a Subpopulation Eligible for a Therapeutic Trial in Dementia With Lewy Bodies
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 236
- 试验地点
- 2
- 主要终点
- GCase activity in patients and control by fluorometry
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 50 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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
排除标准
- •for patients:
- •Other neurodegenerative disease
- •Gaucher disease
- •Exclusion Criteria for controls:
- •Neurodegenerative disease
- •Cognitive impairment of all causes
研究组 & 干预措施
DLB patients
Dementia with lewy bodies according to the revised criteria of Mc Keith 2017
干预措施: Macrophage biomarkers (Diagnostic Test)
Control
Absence of cognitive impairment and clinical element for a neurodegenerative disease
干预措施: Glucocerebrosidase (Diagnostic Test)
Control
Absence of cognitive impairment and clinical element for a neurodegenerative disease
干预措施: GBA gene (Genetic)
Control
Absence of cognitive impairment and clinical element for a neurodegenerative disease
干预措施: Macrophage biomarkers (Diagnostic Test)
DLB patients
Dementia with lewy bodies according to the revised criteria of Mc Keith 2017
干预措施: Glucocerebrosidase (Diagnostic Test)
DLB patients
Dementia with lewy bodies according to the revised criteria of Mc Keith 2017
干预措施: GBA gene (Genetic)
结局指标
主要结局
GCase activity in patients and control by fluorometry
时间窗: through study competion, an average of 1 year
difference in measurement of glucocerebrosidase enzyme activity (by fluorometry method) between DLB patients and control subjects.
次要结局
- GBA gene and GCase activity(through study competion, an average of 1 year)
- MMSE score and GCase activity(through study competion, an average of 1 year)
- motor sub-score of UPDRS score and GCase activity(through study competion, an average of 1 year)
- GBA gene and macrophage abnormalities(through study competion, an average of 1 year)
- Treatment and macrophage biomarkers(through study competion, an average of 1 year)