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.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
236

participants targeted

Target at P75+ for all trials

Timeline
1mo left

Started Feb 2023

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Progress98%
Feb 2023Jun 2026

First Submitted

Initial submission to the registry

January 27, 2022

Completed
2 months until next milestone

First Posted

Study publicly available on registry

March 31, 2022

Completed
11 months until next milestone

Study Start

First participant enrolled

February 17, 2023

Completed
3.3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 1, 2026

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

June 1, 2026

Last Updated

November 20, 2025

Status Verified

November 1, 2025

Enrollment Period

3.3 years

First QC Date

January 27, 2022

Last Update Submit

November 17, 2025

Conditions

Keywords

GlucocerebrosidaseGBA gene

Outcome Measures

Primary Outcomes (1)

  • 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 Outcomes (5)

  • 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

Study Arms (2)

DLB patients

Dementia with lewy bodies according to the revised criteria of Mc Keith 2017

Diagnostic Test: GlucocerebrosidaseGenetic: GBA geneDiagnostic Test: Macrophage biomarkers

Control

Absence of cognitive impairment and clinical element for a neurodegenerative disease

Diagnostic Test: GlucocerebrosidaseGenetic: GBA geneDiagnostic Test: Macrophage biomarkers

Interventions

GlucocerebrosidaseDIAGNOSTIC_TEST

Blood sample (10ml) for GCase activity

ControlDLB patients
GBA geneGENETIC

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

ControlDLB patients
Macrophage biomarkersDIAGNOSTIC_TEST

Blood sample (20ml) for macrophage biomarkers

ControlDLB patients

Eligibility Criteria

Age50 Years+
Sexall
Healthy VolunteersYes
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

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

You may qualify if:

  • 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
  • Male or female aged ≥ 50 years old
  • Absence of cognitive impairment and clinical element for a neurodegenerative disease

You may not qualify if:

  • Other neurodegenerative disease
  • Gaucher disease
  • Neurodegenerative disease
  • Cognitive impairment of all causes

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Centre de neurologie Cognitive

Paris, France, 75010, France

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

GBA gene

MeSH Terms

Conditions

Lewy Body Disease

Interventions

Glucosylceramidase

Condition Hierarchy (Ancestors)

Parkinsonian DisordersBasal Ganglia DiseasesBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesDementiaMovement DisordersSynucleinopathiesNeurodegenerative DiseasesNeurocognitive DisordersMental Disorders

Intervention Hierarchy (Ancestors)

GlucosidasesGlycoside HydrolasesHydrolasesEnzymesEnzymes and Coenzymes

Central Study Contacts

Claire HOURREGUE, MD

CONTACT

Claire PAQUET, PhD

CONTACT

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

January 27, 2022

First Posted

March 31, 2022

Study Start

February 17, 2023

Primary Completion (Estimated)

June 1, 2026

Study Completion (Estimated)

June 1, 2026

Last Updated

November 20, 2025

Record last verified: 2025-11

Data Sharing

IPD Sharing
Will not share

Locations