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: Recruiting
Location: See location...
Intervention Type: Diagnostic test
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 18
Healthy Volunteers: f
View:

• PD diagnosis according to MDS-PD criteria and for GBA-PD group, presence of heterozygous GBA mutations;

• disease duration 3-7years.

Locations
Other Locations
Italy
Neurological Institute Foundation Casimiro Mondino
RECRUITING
Pavia
Contact Information
Primary
Micol Avenali
micol.avenali@mondino.it
0382.380221
Backup
Cinzia Fattore
cinzia.fattore@mondino.it
0382.380221
Time Frame
Start Date: 2023-04-30
Estimated Completion Date: 2026-04-01
Participants
Target number of participants: 140
Related Therapeutic Areas
Sponsors
Collaborators: IRCCS National Neurological Institute C. Mondino Foundation
Leads: IRCCS San Raffaele

This content was sourced from clinicaltrials.gov