Ignite Creation Date:
2025-12-24 @ 7:48 PM
Ignite Modification Date:
2025-12-25 @ 5:25 PM
Study NCT ID:
NCT06167603
Status:
RECRUITING
Last Update Posted:
2024-02-01
First Post:
2023-11-24
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Exploring Brain Molecular Imaging and Blood Biomarkers in Subjects With Glucocerebrosidase Mutations: Toward a Precision Medicine Approach to Characterize Parkinson's Disease Clinical Trajectories
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D010300', 'term': 'Parkinson 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': 'D009069', 'term': 'Movement Disorders'}, {'id': 'D000080874', 'term': 'Synucleinopathies'}, {'id': 'D019636', 'term': 'Neurodegenerative Diseases'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D006403', 'term': 'Hematologic Tests'}, {'id': 'D010808', 'term': 'Physical Examination'}], 'ancestors': [{'id': 'D019411', 'term': 'Clinical Laboratory Techniques'}, {'id': 'D019937', 'term': 'Diagnostic Techniques and Procedures'}, {'id': 'D003933', 'term': 'Diagnosis'}, {'id': 'D008919', 'term': 'Investigative Techniques'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 140}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2023-04-30', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2024-01', 'completionDateStruct': {'date': '2026-04-01', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2024-01-31', 'studyFirstSubmitDate': '2023-11-24', 'studyFirstSubmitQcDate': '2023-12-04', 'lastUpdatePostDateStruct': {'date': '2024-02-01', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2023-12-12', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2024-12-12', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': "FDG-PET to measure cerebral metabolism between Parkinson's subjects with a mutation in GBA gene (MP-GBA) compared to patients with idiopathic Parkinson's.", 'timeFrame': '3 years', 'description': "Differences in expression levels of posterior cerebral metabolism between Parkinson's patients with GBA mutation and idiopathic Parkinson's patients."}]}, 'oversightModule': {'oversightHasDmc': True, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Parkinson Disease']}, 'descriptionModule': {'briefSummary': "Glucocerebrosidase (GBA) mutations are the most common risk factor for Parkinson's Disease (PD). GBA-related PD(GBA-PD) exhibits a more malignant phenotype as compared to no-carriers. Still, the mechanisms behind the increased malignancy in GBA-PD are not well understood. The definition of biomarkers able to stratify PD clinical trajectories in PD is therefore crucial to identify effective treatments and support diagnosis.The investigators will examine the role of GBA-mutations in accelerating a-synuclein (a-syn) and synaptic pathologies in PD by combining neuroimaging (positron emission tomography-PET), biochemical and clinical features. This will illuminate the pathophysiology underlying GBA-mutations in PD and identify biomarkers for the malignant PD phenotype. Also, the investigators will combine longitudinal clinical and imaging/biochemical features to define a prognostic algorithm for predicting disease faster progression in GBA-PD and monitoring disease trajectories in unaffected GBA carriers."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'PD patients with and without GBA mutations and asymptomatic GBA mutation carriers, relatives of GBA-PD patients.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* PD diagnosis according to MDS-PD criteria and for GBA-PD group, presence of heterozygous GBA mutations;\n* disease duration 3-7years.\n\nExclusion Criteria:\n\n* other neurological or systemic diseases;\n* presence of mutations in another PD gene;\n* impossibility or unwillingness to perform FDG-PET.'}, 'identificationModule': {'nctId': 'NCT06167603', 'briefTitle': "Exploring Brain Molecular Imaging and Blood Biomarkers in Subjects With Glucocerebrosidase Mutations: Toward a Precision Medicine Approach to Characterize Parkinson's Disease Clinical Trajectories", 'organization': {'class': 'OTHER', 'fullName': 'IRCCS San Raffaele'}, 'officialTitle': "Exploring Brain Molecular Imaging and Blood Biomarkers in Subjects With Glucocerebrosidase Mutations: Toward a Precision Medicine Approach to Characterize Parkinson's Disease Clinical Trajectories", 'orgStudyIdInfo': {'id': 'GR-2021-12373993'}}, 'armsInterventionsModule': {'interventions': [{'name': 'FDG-PET', 'type': 'DIAGNOSTIC_TEST', 'description': 'Among other neuroimaging techniques, FDG-PET represents a unique tool to study the early metabolic alterations associated with neurodegeneration, both at the group and individual subject level.'}, {'name': 'Blood test and clinical examination.', 'type': 'DIAGNOSTIC_TEST', 'description': 'baseline, 12-months and 24 months.'}]}, 'contactsLocationsModule': {'locations': [{'city': 'Pavia', 'status': 'RECRUITING', 'country': 'Italy', 'contacts': [{'name': 'Micol Avenali', 'role': 'CONTACT', 'email': 'micol.avenali@mondino.it'}, {'name': 'Cinzia Fattore', 'role': 'CONTACT', 'email': 'cinzia.fattore@mondino.it'}, {'name': 'Micol Avenali', 'role': 'PRINCIPAL_INVESTIGATOR'}, {'name': 'Arturo Chiti', 'role': 'SUB_INVESTIGATOR'}, {'name': 'Silvia Paola Caminiti', 'role': 'SUB_INVESTIGATOR'}], 'facility': 'Neurological Institute Foundation Casimiro Mondino', 'geoPoint': {'lat': 45.19205, 'lon': 9.15917}}], 'centralContacts': [{'name': 'Micol Avenali', 'role': 'CONTACT', 'email': 'micol.avenali@mondino.it', 'phone': '0382.380221'}, {'name': 'Cinzia Fattore', 'role': 'CONTACT', 'email': 'cinzia.fattore@mondino.it', 'phone': '0382.380221'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'IRCCS San Raffaele', 'class': 'OTHER'}, 'collaborators': [{'name': 'IRCCS National Neurological Institute "C. Mondino" Foundation', 'class': 'OTHER'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Professor in Diagnostic Imaging and Radiotherapy Faculty of Medicine and Surgery, Vita-Salute San Raffaele University Director, Department of Nuclear Medicine, IRCCS Ospedale San Raffaele', 'investigatorFullName': 'Chiti Arturo', 'investigatorAffiliation': 'IRCCS San Raffaele'}}}}