LRRK2 (Leucine-Rich Repeat Kinase 2) Parkinson's Disease Fingerprint

NCT07681219 | Not Yet Recruiting

• 1 other identifier: 27556
• Study Type: interventional
• Target: 20
• Locations: 0 countries
• Sites: N/A

Brief Summary

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

Conditions

Parkinsons Disease (PD); LRRK2

Outcome Measures

Primary Outcomes (10)

• 1) To identify molecular and clinical markers of LRRK2-related Parkinson's disease through blood markers analysis, deep clinical phenotyping.

  Movement Disorders Society- Unified PD Rating Scale (MDS-UPDRS). The scoring basis is 0 to 4. The total score across all parts ranges from 0 (no disability) to 260 (total disability). The higher the score, the more advanced or severe the symptoms are.

  Through the study completion, about 3 years

• 2) To identify molecular and clinical markers of LRRK2-related Parkinson's disease through blood markers analysis, deep clinical phenotyping.

  The Hoehn and Yahr (H\&Y) scale. Stage 0: No signs of disease. Stage 1: Unilateral (one-sided) disease involvement only, with minimal or no functional impairment. Stage 1.5: Unilateral plus axial (neck/torso) involvement. Stage 2: Bilateral or midline involvement, without impairment of balance. Stage 2.5: Mild bilateral disease, with recovery on the clinical "pull test" (balance reflex assessment). Stage 3: Mild to moderate bilateral disease; some postural instability, but the patient remains physically independent. Stage 4: Severe disability; however, the patient is still able to walk or stand unassisted. Stage 5: Wheelchair-bound or bedridden unless aided.

  Through the study completion, about 3 years

• 3) To identify molecular and clinical markers of LRRK2-related Parkinson's disease through blood markers analysis, deep clinical phenotyping.

  Unified dyskinesia rating scale (UDysRS). Scoring uses a 0 to 4 Likert-type scale, where higher scores indicate greater dyskinesia severity and impairment.

  Through the study completion, about 3 years

• 4) To identify molecular and clinical markers of LRRK2-related Parkinson's disease through blood markers analysis, deep clinical phenotyping.

  Non-Motor symptoms scale (NMSS). Each of the 30 items is scored by multiplying its severity (0-3) by its frequency (1-4), yielding a possible subscore from 0-12 per item and a total score ranging from 0 to 360. Severity: 0 = None, 1 = Mild: symptoms present but causes little distress or disturbance to patient; 2 = Moderate: some distress or disturbance to patient; 3 = Severe: major source of distress or disturbance to patient. Frequency: 1 = Rarely (\<1/wk); 2 = Often (1/wk); 3 = Frequent (several times per week); 4 = Very Frequent (daily or all the time).

  Through the study completion, about 3 years

• 5) To identify molecular and clinical markers of LRRK2-related Parkinson's disease through blood markers analysis, deep clinical phenotyping.

  Montreal Cognitive Assessment (MoCA). Total Score: 30 points possible. Normal Result: A score of 26 or higher is typically considered normal.

  Through the study completion, about 3 years

• 6) To identify molecular and clinical markers of LRRK2-related Parkinson's disease through blood markers analysis, deep clinical phenotyping.

  Mini Mental status evaluation (MMSE). While the scoring is out of 30 points, results are often categorized to gauge severity: 25-30: Normal cognitive function. 21-24: Mild cognitive impairment. 10-20: Moderate cognitive impairment. Below 10: Severe cognitive impairment.

  Through the study completion, about 3 years

• 7) To identify molecular and clinical markers of LRRK2-related Parkinson's disease through blood markers analysis, deep clinical phenotyping.

  Questionnaire for impulsive-compulsive disorders (QUIP). A rating scale measuring symptom severity. It evaluates 4 primary impulse control disorders (gambling, sexual, buying, eating) and related behaviors, scoring them from 0 to 16 based on thoughts, urges, and difficulty to control.

  Through the study completion, about 3 years

• 8) To identify molecular and clinical markers of LRRK2-related Parkinson's disease through blood markers analysis, deep clinical phenotyping.

  Beck depression inventory (BDI). Each statement is assigned a value from 0 to 3. The scores for all 21 questions are added together to produce a total score between 0 and 63. Total score: 0 to 13: Minimal depression 14 to 19: Mild depression 20 to 28: Moderate depression 29 to 63: Severe depression

  Through the study completion, about 3 years

• 9) To identify molecular and clinical markers of LRRK2-related Parkinson's disease through blood markers analysis, deep clinical phenotyping.

  Beck Anxiety Inventory (BAI). Scoring basis: ranging from 0 (not at all) to 3 (severely). Total score: 0-7: Minimal anxiety 8-15: Mild anxiety 16-25: Moderate anxiety 26-63: Severe anxiety

  Through the study completion, about 3 years

• 10) To identify molecular and clinical markers of LRRK2-related Parkinson's disease through blood markers analysis, deep clinical phenotyping

  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. The unit of measure is pg/mL.

  Through the study completion, about 3 years

Secondary Outcomes (2)

• 1) Mechanistic Modeling of LRRK2-Associated Parkinson's Disease

  Through study completion, about 3 years

• 2) Mechanistic Modeling of LRRK2-Associated Parkinson's Disease

  Through the study completion, about 3 years

Study Arms (1)

Patients who meet the inclusion criteria

EXPERIMENTAL

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

Interventions

The interventions of the study are the study of blood biomarkers and neuroimaging and neurophysiological data DIAGNOSTIC_TEST

* Blood sample collection and markers analysis * Brain 1.5 T MRI * High density EEG

Patients who meet the inclusion criteria

Eligibility Criteria

• Age: 30 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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,
• 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.

You may not qualify if:

• 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).

Sponsors & Collaborators

• Fondazione Policlinico Universitario Agostino Gemelli IRCCS: lead

MeSH Terms

Conditions

Parkinson Disease

Interventions

Neuroimaging

Condition Hierarchy (Ancestors)

Parkinsonian Disorders; Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Movement Disorders; Synucleinopathies; Neurodegenerative Diseases

Intervention Hierarchy (Ancestors)

Diagnostic Imaging; Diagnostic Techniques and Procedures; Diagnosis; Diagnostic Techniques, Neurological; Investigative Techniques

Central Study Contacts

Giulia Di Lazzaro, MD, PhD, Neurologist

CONTACT

+39 3333310889; giulia.dilazzaro@policlinicogemelli.it

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: SCREENING
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD, PhD, Neurologist

Model Details: The study is considered interventional, as the interventions of the study which are the study of blood biomarkers and neuroimaging and neurophysiological data, do not enter in normal clinical practice.

Study Record Dates

• First Submitted: June 26, 2026
• First Posted: July 2, 2026
• Study Start (Estimated): September 1, 2026
• Primary Completion (Estimated): September 1, 2029
• Study Completion (Estimated): September 1, 2029
• Last Updated: July 10, 2026

Record last verified: 2026-06

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL
• Time Frame: The IPD and supporting documents will be available from the start of the study (around Sep 2026) for the duration of the study (3years)