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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

140 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-04-30

Study Completion Date

2026-04-01

Brief Summary

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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.

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Detailed Description

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Conditions

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Parkinson Disease

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Interventions

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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.

Intervention Type DIAGNOSTIC_TEST

Blood test and clinical examination.

baseline, 12-months and 24 months.

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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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.

Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Responsible Party

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Chiti Arturo

Professor in Diagnostic Imaging and Radiotherapy Faculty of Medicine and Surgery, Vita-Salute San Raffaele University Director, Department of Nuclear Medicine, IRCCS Ospedale San Raffaele

Responsibility Role PRINCIPAL_INVESTIGATOR