NCT06167603

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

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 140 (estimated)
• Sponsor: IRCCS San Raffaele · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

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.

Conditions

• Parkinson Disease

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	FDG-PET	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.
DIAGNOSTIC_TEST	Blood test and clinical examination.	baseline, 12-months and 24 months.

Timeline

• Start date: 2023-04-30
• Primary completion: 2024-12-12
• Completion: 2026-04-01
• First posted: 2023-12-12
• Last updated: 2024-02-01

Locations

1 site across 1 country: Italy