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

Recruiting

• Conditions: Parkinson Disease

• Registration Number: NCT06167603
• Lead Sponsor: IRCCS San Raffaele

Brief 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.

Detailed Description

Not available

Study Timeline

• Study Start: 2023-04-30
• Study First Submitted: 2023-11-24
• Study First Submitted QC: 2023-12-04
• Study First Posted: 2023-12-12
• Status Verified: 2024-01
• Last Update Submitted: 2024-01-31
• Last Update Posted: 2024-02-01
• Primary Completion: 2024-12-12
• Study Completion: 2026-04-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 140

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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.	3 years	Differences in expression levels of posterior cerebral metabolism between Parkinson's patients with GBA mutation and idiopathic Parkinson's patients.

Trial Locations

Locations (1)

Neurological Institute Foundation Casimiro Mondino; 🇮🇹 Pavia, Italy