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

January 31, 2024 updated by: Chiti Arturo, IRCCS San Raffaele
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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

140

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • Italy
      • Pavia, Italy
        • Recruiting
        • Neurological Institute Foundation Casimiro Mondino
        • Contact:
        • Contact:
        • Principal Investigator:
          • Micol Avenali
        • Sub-Investigator:
          • Arturo Chiti
        • Sub-Investigator:
          • Silvia Paola Caminiti

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Probability Sample

Study Population

PD patients with and without GBA mutations and asymptomatic GBA mutation carriers, relatives of GBA-PD patients.

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Time Frame: 3 years
Differences in expression levels of posterior cerebral metabolism between Parkinson's patients with GBA mutation and idiopathic Parkinson's patients.
3 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

IRCCS San Raffaele

Collaborators

IRCCS National Neurological Institute "C. Mondino" Foundation

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

April 30, 2023

Primary Completion (Estimated)

December 12, 2024

Study Completion (Estimated)

April 1, 2026

Study Registration Dates

First Submitted

November 24, 2023

First Submitted That Met QC Criteria

December 4, 2023

First Posted (Actual)

December 12, 2023

Study Record Updates

Last Update Posted (Estimated)

February 1, 2024

Last Update Submitted That Met QC Criteria

January 31, 2024

Last Verified

January 1, 2024

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • GR-2021-12373993

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Parkinson Disease

Clinical Trials on FDG-PET

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Saudi Arabia

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe