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

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT06167603

Enrollment

140

Registered

2023-12-12

Start date

2023-04-30

Completion date

2026-04-01

Last updated

2024-02-01

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Parkinson Disease

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.

Interventions

DIAGNOSTIC_TESTFDG-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_TESTBlood test and clinical examination.

baseline, 12-months and 24 months.

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

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.

Design outcomes

Primary

Measure	Time frame	Description
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.

Countries

Italy

Contacts

Primary ContactMicol Avenali

micol.avenali@mondino.it0382.380221

Backup ContactCinzia Fattore

cinzia.fattore@mondino.it0382.380221

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026