Exploring Brain Molecular Imaging and Blood Biomarkers in Subjects With Glucocerebrosidase Mutations: Toward a Precision Medicine Approach to Characterize Parkinson's Disease Clinical Trajectories

San Donato Group (GSD)

Status: Enrolling

Conditions: Parkinson Disease

Treatments: Diagnostic Test: FDG-PET; Diagnostic Test: Blood test and clinical examination.

Study type: Observational

Funder types: Other

Identifiers

NCT06167603

GR-2021-12373993

Details and patient eligibility

About

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.

Enrollment: 140 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• PD diagnosis according to MDS-PD criteria and for GBA-PD group, presence of heterozygous GBA mutations;
• disease duration 3-7years.

Exclusion criteria

• other neurological or systemic diseases;
• presence of mutations in another PD gene;
• impossibility or unwillingness to perform FDG-PET.