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

Dementia With Lewy Bodies Clinical Trial

— EGELY  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05304195
• Other study ID #: APHP201175
• Secondary ID: 2021-A02345-36
• Status: Recruiting
• Start date: February 17, 2023
• Est. completion date: June 2025

Study information

• Verified date: February 2023
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: Claire HOURREGUE, MD
• Phone: 0140054313
• Email: claire.hourregue[@]aphp.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 236
• Est. completion date: June 2025
• Est. primary completion date: June 2025
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 50 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Dementia
• Dementia With Lewy Bodies
• Lewy Body Disease

Intervention

Diagnostic Test:
• Glucocerebrosidase
Blood sample (10ml) for GCase activity

Genetic:
• GBA gene
Blood sample (10ml) for variants or mutations of the GBA gene

Locations

Country	Name	City	State
France	Centre de neurologie Cognitive	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Secondary	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
Secondary	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	through study competion, an average of 1 year
Secondary	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