MedTrace Logo

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

NCT06167603 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 140

Last updated 2024-02-01

No results posted yet for this study

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

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.

Sponsors & Collaborators

  • IRCCS National Neurological Institute "C. Mondino" Foundation

    collaborator OTHER

  • IRCCS San Raffaele

    lead OTHER

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-04-30
Primary Completion
2024-12-12
Completion
2026-04-01

Countries

  • Italy

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06167603 on ClinicalTrials.gov