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NCT Number: NCT05304195

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

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.

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Key information

Conditions

Dementia With Lewy Bodies Basal Ganglia Diseases Brain Diseases Central Nervous System Diseases Dementia Lewy Body Disease Mental Disorders Movement Disorders Nervous System Diseases Neurocognitive Disorders Neurodegenerative Diseases Parkinsonian Disorders Synucleinopathies

Age range

50 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Centre de neurologie Cognitive

Paris, France, 75010

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Glucocerebrosidase

Diagnostic Test

Blood sample (10ml) for GCase activity

GBA gene

Genetic

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

Macrophage biomarkers

Diagnostic Test

Blood sample (20ml) for macrophage biomarkers

Primary outcomes

  1. GCase activity in patients and control by fluorometry

    Time frame: through study competion, an average of 1 year

    difference in measurement of glucocerebrosidase enzyme activity (by fluorometry method) between DLB patients and control subjects.

Secondary outcomes

  1. GBA gene and GCase activity

    Time frame: through study competion, an average of 1 year

    correlation between the presence of GBA gene mutation and the measurement of glucocerebrosidase enzymatic activity

  2. MMSE score and GCase activity

    Time frame: through study competion, an average of 1 year

    correlation between the measurement of glucocerebrosidase enzymatic activity and MMSE score (Mini-Mental State Examination from 0-severe to 30-normal) of DLB patients

  3. motor sub-score of UPDRS score and GCase activity

    Time frame: through study competion, an average of 1 year

    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.

  4. GBA gene and macrophage abnormalities

    Time frame: through study competion, an average of 1 year

    Correlation between the presence of a GBA gene mutation and abnormal macrophage activation reflecting a specific inflammatory profile and biomarker variation.

  5. Treatment and macrophage biomarkers

    Time frame: through study competion, an average of 1 year

    Identification of the impact of treatments targeting the GBA pathway on the deregulation of biomarkers in macrophages.

Sponsors and collaborators

Lead sponsor

Assistance Publique - Hôpitaux de Paris

Other

Registry information

Official study title

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

Acronym: EGELY

Important dates

Study start
2023
Primary completion
2026
Study completion
2026
First posted
Mar 31, 2022
Registry last updated
Jun 22, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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