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

Last updated: October 21, 2024
Sponsor: Assistance Publique - Hôpitaux de Paris
Overall Status: Active - Recruiting

Phase

N/A

Condition

Parkinson's With Dementia

Dementia

Parkinson's Disease

Treatment

Macrophage biomarkers

Glucocerebrosidase

GBA gene

Clinical Study ID

NCT05304195
APHP201175
2021-A02345-36
  • Ages > 50
  • All Genders
  • Accepts Healthy Volunteers

Study 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.

Eligibility Criteria

Inclusion

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

Study Design

Total Participants: 236
Treatment Group(s): 3
Primary Treatment: Macrophage biomarkers
Phase:
Study Start date:
February 17, 2023
Estimated Completion Date:
June 30, 2025

Study 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.

Connect with a study center

  • Centre de neurologie Cognitive

    Paris, 75010
    France

    Active - Recruiting

Not the study for you?

Let us help you find the best match. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.