Ignite Creation Date:
2025-12-24 @ 2:03 PM
Ignite Modification Date:
2025-12-27 @ 10:39 PM
Study NCT ID:
NCT05304195
Status:
RECRUITING
Last Update Posted:
2025-11-20
First Post:
2022-01-27
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Exploration of GCase Activity to Identify a Subpopulation Eligible for a Therapeutic Trial in Dementia With Lewy Bodies
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D020961', 'term': 'Lewy Body Disease'}], 'ancestors': [{'id': 'D020734', 'term': 'Parkinsonian Disorders'}, {'id': 'D001480', 'term': 'Basal Ganglia Diseases'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D003704', 'term': 'Dementia'}, {'id': 'D009069', 'term': 'Movement Disorders'}, {'id': 'D000080874', 'term': 'Synucleinopathies'}, {'id': 'D019636', 'term': 'Neurodegenerative Diseases'}, {'id': 'D019965', 'term': 'Neurocognitive Disorders'}, {'id': 'D001523', 'term': 'Mental Disorders'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D005962', 'term': 'Glucosylceramidase'}], 'ancestors': [{'id': 'D005959', 'term': 'Glucosidases'}, {'id': 'D006026', 'term': 'Glycoside Hydrolases'}, {'id': 'D006867', 'term': 'Hydrolases'}, {'id': 'D004798', 'term': 'Enzymes'}, {'id': 'D045762', 'term': 'Enzymes and Coenzymes'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'GBA gene'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_CONTROL'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 236}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2023-02-17', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-11', 'completionDateStruct': {'date': '2026-06', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-11-17', 'studyFirstSubmitDate': '2022-01-27', 'studyFirstSubmitQcDate': '2022-03-21', 'lastUpdatePostDateStruct': {'date': '2025-11-20', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2022-03-31', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2026-06', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'GCase activity in patients and control by fluorometry', 'timeFrame': 'through study competion, an average of 1 year', 'description': 'difference in measurement of glucocerebrosidase enzyme activity (by fluorometry method) between DLB patients and control subjects.'}], 'secondaryOutcomes': [{'measure': 'GBA gene and GCase activity', 'timeFrame': 'through study competion, an average of 1 year', 'description': 'correlation between the presence of GBA gene mutation and the measurement of glucocerebrosidase enzymatic activity'}, {'measure': 'MMSE score and GCase activity', 'timeFrame': 'through study competion, an average of 1 year', 'description': 'correlation between the measurement of glucocerebrosidase enzymatic activity and MMSE score (Mini-Mental State Examination from 0-severe to 30-normal) of DLB patients'}, {'measure': 'motor sub-score of UPDRS score and GCase activity', 'timeFrame': 'through study competion, an average of 1 year', 'description': '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.'}, {'measure': 'GBA gene and macrophage abnormalities', 'timeFrame': 'through study competion, an average of 1 year', 'description': 'Correlation between the presence of a GBA gene mutation and abnormal macrophage activation reflecting a specific inflammatory profile and biomarker variation.'}, {'measure': 'Treatment and macrophage biomarkers', 'timeFrame': 'through study competion, an average of 1 year', 'description': 'Identification of the impact of treatments targeting the GBA pathway on the deregulation of biomarkers in macrophages.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Glucocerebrosidase', 'GBA gene'], 'conditions': ['Dementia With Lewy Bodies']}, 'descriptionModule': {'briefSummary': '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.\n\nThe 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.', 'detailedDescription': 'Population: 118 patients and 118 control subjects Act of research: blood test\n\nObjectifs :\n\n* Comparison of glucocerebrosidase activity between patients and controls\n* Search for variants or mutations of the GBA gene and correlation with glucocerebrosidase activity\n* Correlation between clinical characteristics (UPDRS motor scale, MMSE cognitive scale) and GCase activity in patients\n* Identification of macrophage abnormalities and the impact of treatments targeting the GBA pathway on the deregulation of biomarkers in patient macrophages.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '50 Years', 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': "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", 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria for patients :\n\n* Male or female aged ≥ 50 years old\n* Presence of an accompanying person\n* Dementia with lewy bodies according to the revised criteria of Mc Keith 2017\n\nInclusion Criteria for controls:\n\n* Male or female aged ≥ 50 years old\n* Absence of cognitive impairment and clinical element for a neurodegenerative disease\n\nExclusion Criteria for patients:\n\n* Other neurodegenerative disease\n* Gaucher disease\n\nExclusion Criteria for controls:\n\n* Neurodegenerative disease\n* Cognitive impairment of all causes'}, 'identificationModule': {'nctId': 'NCT05304195', 'acronym': 'EGELY', 'briefTitle': 'Exploration of GCase Activity to Identify a Subpopulation Eligible for a Therapeutic Trial in Dementia With Lewy Bodies', 'organization': {'class': 'OTHER', 'fullName': 'Assistance Publique - Hôpitaux de Paris'}, 'officialTitle': 'Exploration of Glucocerebrosidase Activity to Identify a Subpopulation Eligible for a Therapeutic Trial in Dementia With Lewy Bodies', 'orgStudyIdInfo': {'id': 'APHP201175'}, 'secondaryIdInfos': [{'id': '2021-A02345-36', 'type': 'OTHER', 'domain': 'IDRCB'}]}, 'armsInterventionsModule': {'armGroups': [{'label': 'DLB patients', 'description': 'Dementia with lewy bodies according to the revised criteria of Mc Keith 2017', 'interventionNames': ['Diagnostic Test: Glucocerebrosidase', 'Genetic: GBA gene', 'Diagnostic Test: Macrophage biomarkers']}, {'label': 'Control', 'description': 'Absence of cognitive impairment and clinical element for a neurodegenerative disease', 'interventionNames': ['Diagnostic Test: Glucocerebrosidase', 'Genetic: GBA gene', 'Diagnostic Test: Macrophage biomarkers']}], 'interventions': [{'name': 'Glucocerebrosidase', 'type': 'DIAGNOSTIC_TEST', 'description': 'Blood sample (10ml) for GCase activity', 'armGroupLabels': ['Control', 'DLB patients']}, {'name': 'GBA gene', 'type': 'GENETIC', 'description': 'Blood sample (10ml) for variants or mutations of the GBA gene', 'armGroupLabels': ['Control', 'DLB patients']}, {'name': 'Macrophage biomarkers', 'type': 'DIAGNOSTIC_TEST', 'description': 'Blood sample (20ml) for macrophage biomarkers', 'armGroupLabels': ['Control', 'DLB patients']}]}, 'contactsLocationsModule': {'locations': [{'zip': '75010', 'city': 'Paris', 'state': 'France', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Claire HOURREGUE', 'role': 'CONTACT'}], 'facility': 'Centre de neurologie Cognitive', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}], 'centralContacts': [{'name': 'Claire HOURREGUE, MD', 'role': 'CONTACT', 'email': 'claire.hourregue@aphp.fr', 'phone': '0140054313', 'phoneExt': '+33'}, {'name': 'Claire PAQUET, PhD', 'role': 'CONTACT', 'email': 'claire.paquet@aphp.fr', 'phone': '0140054313', 'phoneExt': '+33'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Assistance Publique - Hôpitaux de Paris', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}