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.
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.
Study Type
OBSERVATIONAL
Enrollment
410
Rambam Health Care Campus
Haifa, Israel
Rabin Medical Center
Petach Tikvah, Israel
Tel Aviv Sourasky Medical Center
Tel Aviv, Israel
Chaim Sheba Medical Center
Tel Litwinsky, Israel
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.
Time frame: One year from enrollment
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.
Time frame: 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.
Time frame: 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.
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Assaf Harofeh Medical Center
Ẕerifin, Israel
Pisa University Hospital
Pisa, Italy
Time frame: One year from enrollment