Study for the Early Diagnosis of Parkinson's Disease

Study Overview
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Brief Summary
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The main objective of the study is to design and validate the blood based PDx gene expression and miRNA assay for the early diagnosis of Parkinson's disease patients. Differential diagnosis includes patients with Multiple System Atrophy, Progressive Supranuclear Palsy, Corticobasal Degeneration, Lewy Body Dementia, Essential Tremor and Normal Controls.

Detailed Description
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In this study, the PDx assay will be designed and validated in order to distinguish between Idiopathic Parkinson's disease (PD) to patients with similar symptoms and healthy controls. The differential diagnosis cohort includes patients diagnosed with Multiple System Atrophy (MSA), Progressive Supranuclear Palsy (PSP), Corticobasal Degeneration (CBD), Essential Tremor (ET) or Lewy Body Dementia (LBD) and Healthy Controls. This is a prospective observational study. Blood samples and clinical data will be collected at the first and only study visit. The expression levels of 5 to 6 genes will be analyzed by blinding technicians concerning the diagnosis, demographic data and clinical data, which will be revealed after sending PDx gene expression values to the clinical sites. The gene expression levels will be compared between Parkinson's disease patients to the differential diagnosis cohort and healthy controls. Additional mRNA and miRNA markers will be explored. The primary aim of the study is to design and validate a clinical classifier that will aid the physician in the diagnosis of Parkinson's disease patients. The analysis will be performed in two stages: Stage 1) Exploration analysis and Stage 2) Validation. After one year of taking a blood sample, the study physician will contacted to confirm the patient's diagnosis. Blood samples will be collected at specialized movement disorder clinics. Medical history, clinical diagnostic features, family history in regard to Parkinson's disease, use of medication and routine imaging assessment (not mandatory) will be collected at the first and only patient visit.

Official Title
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PDx Biomarker Assay Study for the Diagnosis of Parkinson's Disease

Conditions
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Parkinson's Disease, Idiopathic

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patient is able and willing to read the informed consent form Patient with clinical diagnosis of Idiopathic Parkinson's Disease according to Queen Square Brain Bank Criteria up to one year prior to enrollment in study Patient with diagnosis of MSA, PSP, CBD, Lewy Body Dementia, Essential Tremor or Healthy Control Men and Women aged 40-80 years Willing and able to comply with procurement of blood sample Exclusion Criteria: Any medical, psychiatric or other conditions which, in the opinion of the investigator, would preclude participation Pregnancy

Ages Eligible for Study
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Minimum Age: 40 Years
Maximum Age: 80 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Idiopathic Parkinson's disease<br>Patient with clinical diagnosis of Idiopathic Parkinson's Disease according to Queen Square Brain Bank Criteria up to one year prior to enrollment in study. | |
| Differential Diagnosis Group<br>MSA, PSP, CBD, Lewy body dementia, Essential Tremor, and Healthy Controls | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| The Diagnostic Accuracy of PDx mRNA Assay in Diagnosing Idiopathic Parkinson's Disease | Investigate the diagnostic accuracy of the PDx gene expression assay, comprised of 5-6 expressed genes (mRNA - RQ-PCR), to differentiate patients with Idiopathic Parkinson's disease from the Differential Diagnosis Group. Diagnostic Accuracy includes sensitivity, specificity, likelihood ratios and the area under the receiver operating characteristic (ROC) curve. Diagnostic Accuracy will be calculated by comparing the PDx assay results to the Gold Standard Diagnosis, which will be the Clinical diagnosis of the Patient one year after the first and only visit (day of blood collection). The physician investigator will be contacted if there was any change in the baseline diagnosis one year after blood collection according to routine clinical findings. | One year from enrollment | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Diagnostic Accuracy of each one of the PDx assay's expressed genes for Differentiating Idiopathic Parkinson's Disease Patients from Atypical Parkinsonism Patients. | Investigate the diagnostic accuracy (sensitivity, specificity, likelihood ratios and AUC) of each one of the PDx assay expressed genes (RQ-PCR) to differentiate Idiopathic Parkinson's Disease Patients from Atypical Parkinsonism Patients. | One year from enrollment | 
| Diagnostic Accuracy of each one of the PDx assay's expressed genes for Differentiating Idiopathic Parkinson's Disease Patients from Essential Tremor Patients. | Investigate the diagnostic accuracy (sensitivity, specificity, likelihood ratios and AUC) of each one of the PDx assay expressed genes (RQ-PCR) to differentiate Idiopathic Parkinson's Disease Patients from Essential Tremor Patients. | One year from enrollment | 
| Diagnostic Accuracy of each one of the PDx assay's expressed genes for Differentiating Idiopathic Parkinson's Disease Patients from Healthy Controls. | Investigate the diagnostic accuracy (sensitivity, specificity, likelihood ratios and AUC) of each one of the PDx assay expressed genes (RQ-PCR) to differentiate Idiopathic Parkinson's Disease Patients from Healthy Controls. | One year from enrollment | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Diagnosis