LRRK2 Parkinson's Disease Fingerprint
Trial statusNot yet recruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age30-80
SponsorFondazione Policlinico Universitario Agostino Gemelli IRCCS
About this trial
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
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
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,
Disqualifiers
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;
Trial design
Design model
Single group
Treatments tested in this trial
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
Treatment groups
20 Participants
are divided into 1 treatment groupGroup A: Patients who meet the inclusion criteriaExperimental treatment 1 intervention
Trial outcomes
Primary outcomes
1
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
Time frame
Through the study completion, about 3 yearsSecondary outcomes
1
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).
Time frame
Through study completion, about 3 yearsLocations
Sponsors and contacts
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Source ClinicalTrials.gov
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