LRRK2 Parkinson's Disease Fingerprint (NEU-PD)

LRRK2 Associated Parkinson's Disease: Definition of a Clinical, Molecular and Neurophysiological Fingerprint

The goal of this interventional monocentric study is to identify molecular and clinical markers of LRRK2-related Parkinson's disease through blood markers analysis and deep clinical phenotyping. Patients who meet the inclusion criteria, after signing the informed consent form will be clinically evaluated by a neurologist expert in movement disorders. Eventually, patients will undergo a blood sample collection, a brain MRI, and a high density EEG. All data will be collected using an ad hoc electronic Case Report Form (CRF) developed for the study

Study Overview

• Status: Not yet recruiting
• Conditions: LRRK2; Parkinsons Disease (PD)
• Intervention / Treatment: Diagnostic test: The interventions of the study are the study of blood biomarkers and neuroimaging and neurophysiological data

• Study Type: Interventional
• Enrollment (Estimated): 20
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Giulia Di Lazzaro, MD, PhD, Neurologist; Phone Number: +39 3333310889; Email: giulia.dilazzaro@policlinicogemelli.it

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• age 30-80 years,
• clinically established diagnosis of PD according to the Movement Disorders Society (MDS) diagnostic criteria,
• Hoehn & Yahr (H&Y) stage between 1 and 3,
• 10 patients with a LRRK2 associated parkinsonism and 10 with sporadic PD tested with a NGS panel and MLPA for PD associated genes,
• ability to provide informed consent.

Exclusion Criteria:

• Active or history of other neurological disorders,
• active infectious disease or history within the previous 4 weeks,
• continuative therapy (at least 1 week) with NSAIDs or steroids within the previous 12 weeks,
• active malignancy, autoinflammatory or autoimmune diseases or history within the previous 3 years;
• alcohol or drug abuse or dependence
• any contraindication to the execution of the MRI (including claustrophobia).

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Screening
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Patients who meet the inclusion criteria; This is a single arm study. All enrolled patients will receive the same interventions throughout the study.	Diagnostic test: The interventions of the study are the study of blood biomarkers and neuroimaging and neurophysiological data; Blood sample collection and markers analysis; Brain 1.5 T MRI; High density EEG

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
To identify molecular and clinical markers of LRRK2-related Parkinson's disease through blood markers analysis, deep clinical phenotyping.	Clinical assessment: the following scale will be used: Movement Disorders Society- Unified PD Rating Scale (MDS-UPDRS), H&Y staging, Unified dyskinesia rating scale (UDysRS), Non-Motor symptoms scale (NMSS), Montreal Cognitive Assessment (MoCA), Mini Mental status evaluation (MMSE), Questionnaire for impulsive-compulsive disorders (QUIP), Beck depression inventory (BDI) and Beck Anxiety Inventory (BAI).; Molecular markers assessment: A panel of pro- and anti-inflammatory mediators will be analysed (IL1-b, TNFa, IFNg, IL4, IL5, IL6, IL17, IL10) along with Neurofilament light chain	Through the study completion, about 3 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Mechanistic Modeling of LRRK2-Associated Parkinson's Disease	To attain this, the work package will be structured into two subtasks: UO2 and 3 (Associazione La Nostar Famiglia - IRCCS Eugenio Medea and Università degli Studi di Sassari)): IDENTIFY relevant data features (months 12-36). This task seeks to map large-scale brain dynamics (EEG-derived metrics) to symptoms-related changes in idiopathic PD vs LRRK2-PD, before and after dopaminergic therapy. The success of task one will be evaluated on the predictive power of the EEG-derived metrics to distinguish ON/OFF, LRRK2/Idiopathic patients and to predict clinical symptoms.; UO2 and 3: PREDICT such changes using patient-specific in silico models (months 12-36).	Through study completion, about 3 years

Collaborators and Investigators

• Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Study record dates

Study Major Dates

• Study Start (Estimated): September 1, 2026
• Primary Completion (Estimated): September 1, 2029
• Study Completion (Estimated): September 1, 2029

Study Registration Dates

• First Submitted: June 26, 2026
• First Submitted That Met QC Criteria: June 26, 2026
• First Posted (Actual): July 2, 2026

Study Record Updates

• Last Update Posted (Actual): July 2, 2026
• Last Update Submitted That Met QC Criteria: June 26, 2026
• Last Verified: June 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Synucleinopathies; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurodegenerative Diseases; Movement Disorders; Parkinsonian Disorders; Basal Ganglia Diseases; Parkinson Disease; Investigative Techniques; Diagnostic Techniques and Procedures; Diagnosis; Diagnostic Imaging; Diagnostic Techniques, Neurological; Neuroimaging
• Other Study ID Numbers: 27556

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No