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

Parkinson Disease Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06167603
• Other study ID #: GR-2021-12373993
• Status: Recruiting
• Start date: April 30, 2023
• Est. completion date: April 1, 2026

Study information

• Verified date: January 2024
• Source: IRCCS San Raffaele
• Contact: Micol Avenali
• Phone: 0382.380221
• Email: micol.avenali[@]mondino.it
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 140
• Est. completion date: April 1, 2026
• Est. primary completion date: December 12, 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Parkinson Disease

Intervention

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.
• Blood test and clinical examination.
baseline, 12-months and 24 months.

Locations

Country	Name	City	State
Italy	Neurological Institute Foundation Casimiro Mondino	Pavia

Sponsors (2)

Lead Sponsor	Collaborator
IRCCS San Raffaele	IRCCS National Neurological Institute "C. Mondino" Foundation

Country where clinical trial is conducted

Italy, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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.	Differences in expression levels of posterior cerebral metabolism between Parkinson's patients with GBA mutation and idiopathic Parkinson's patients.	3 years