Dementia With Lewy BodiesEGELYNCT05304195
Exploration of GCase Activity to Identify a Subpopulation Eligible for a Therapeutic Trial in Dementia With Lewy Bodies
An observational study of Dementia With Lewy Bodies, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
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. Read more about this study
- Who is it for?
- Ages 50 years and olderHealthy volunteers can take part
- Conditions the study is for
- Dementia With Lewy Bodies
- What is being tested?
- Glucocerebrosidase, GBA gene and Macrophage biomarkers
- How many people
- 236 participants
- Where
- 1 siteFrance
- Study dates
- 17 Feb 2023to 17 Jun 2026
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 50 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
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
Who may be able to join
- 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
Who cannot join
- Other neurodegenerative disease
- Gaucher disease
- Neurodegenerative disease
- Cognitive impairment of all causes
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Exploration of Glucocerebrosidase 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.
Read the detailed 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.
- Conditions
- Dementia With Lewy Bodies
- Being tested
- Glucocerebrosidase, GBA gene, Macrophage biomarkers
- Keywords
- Glucocerebrosidase, GBA gene
- Medical subject headings
- Lewy Body Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
GlucocerebrosidaseDiagnostic test
Blood sample (10ml) for GCase activity
GBA geneGenetic
Blood sample (10ml) for variants or mutations of the GBA gene
Macrophage biomarkersDiagnostic test
Blood sample (20ml) for macrophage biomarkers
| Study group | Role | What they receive |
|---|---|---|
| DLB patients | Dementia with lewy bodies according to the revised criteria of Mc Keith 2017 Receives: Diagnostic Test: Glucocerebrosidase; Genetic: GBA gene; Diagnostic Test: Macrophage biomarkers | |
| Control | Absence of cognitive impairment and clinical element for a neurodegenerative disease Receives: Diagnostic Test: Glucocerebrosidase; Genetic: GBA gene; Diagnostic Test: Macrophage biomarkers |
What is being measured
The primary outcome is the main question the study is designed to answer.
GCase activity in patients and control by fluorometry
difference in measurement of glucocerebrosidase enzyme activity (by fluorometry method) between DLB patients and control subjects.
Measured: through study competion, an average of 1 year
Secondary outcomes (5)
GBA gene and GCase activity
correlation between the presence of GBA gene mutation and the measurement of glucocerebrosidase enzymatic activity
Measured: through study competion, an average of 1 year
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
Measured: through study competion, an average of 1 year
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.
Measured: through study competion, an average of 1 year
GBA gene and macrophage abnormalities
Correlation between the presence of a GBA gene mutation and abnormal macrophage activation reflecting a specific inflammatory profile and biomarker variation.
Measured: through study competion, an average of 1 year
Treatment and macrophage biomarkers
Identification of the impact of treatments targeting the GBA pathway on the deregulation of biomarkers in macrophages.
Measured: through study competion, an average of 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Mar 2022
- Study start17 Feb 2023
- Primary completion17 Jun 2026
- Study completion17 Jun 2026
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Dementia With Lewy BodiesStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 236 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05304195
- Sponsor's protocol ID
- APHP201175
- Other IDs
- 2021-A02345-36
- Acronym
- EGELY
- Status last verified
- Jun 2026
- First submitted
- 27 Jan 2022
- Last updated
- 22 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Exploration of Glucocerebrosidase Activity to Identify a Subpopulation Eligible for a Therapeutic Trial in Dementia With Lewy Bodies
- ClinicalTrials.gov ID
- NCT05304195
- Acronym / sponsor ID
- EGELY / APHP201175
- Conditions
- Dementia With Lewy Bodies
- Keywords
- Glucocerebrosidase, GBA gene
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 236 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- 17 Feb 2023 (actual)
- Primary completion
- 17 Jun 2026 (actual)
- Study completion
- 17 Jun 2026 (actual)
- First posted
- 31 Mar 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed 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.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| DLB patients | – | Diagnostic Test: Glucocerebrosidase, Genetic: GBA gene, Diagnostic Test: Macrophage biomarkersDementia with lewy bodies according to the revised criteria of Mc Keith 2017 |
| Control | – | Diagnostic Test: Glucocerebrosidase, Genetic: GBA gene, Diagnostic Test: Macrophage biomarkersAbsence of cognitive impairment and clinical element for a neurodegenerative disease |
Who may qualify
- Ages
- 50 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- 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
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (4 listed)
- Other neurodegenerative disease
- Gaucher disease
- Neurodegenerative disease
- Cognitive impairment of all causes
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| GlucocerebrosidaseBlood sample (10ml) for GCase activity | Diagnostic test | Control, DLB patients |
| GBA geneBlood sample (10ml) for variants or mutations of the GBA gene | Genetic | Control, DLB patients |
| Macrophage biomarkersBlood sample (20ml) for macrophage biomarkers | Diagnostic test | Control, DLB patients |
Primary outcome
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.
5 secondary outcomes
GBA gene and GCase activity
Time frame: through study competion, an average of 1 year
MMSE score and GCase activity
Time frame: through study competion, an average of 1 year
motor sub-score of UPDRS score and GCase activity
Time frame: through study competion, an average of 1 year
GBA gene and macrophage abnormalities
Time frame: through study competion, an average of 1 year
Treatment and macrophage biomarkers
Time frame: through study competion, an average of 1 year
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Jun 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Dementia With Lewy Bodies, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 22 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
GCase activity in patients and control by fluorometry (time frame: through study competion, an average of 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Jun 2026.