Exploring the Olfactory Mucosa, Blood and Urine for the Identification of Early Biomarkers of Parkinson's Disease, Atypical Parkinsonisms and Neurocognitive Disorders Due to Lewy Body Disease
Parkinson DiseaseMSA - Multiple System AtrophyLewy Body Dementia (LBD)Neurodegenerative DiseaseHealthy Subjects (HS)
Study summary
Clinical diagnosis of Parkinson's disease (PD), multiple system atrophy (MSA) and dementia with Lewy bodies (DLB) is challenging, especially in the early stages. Each disease is associated with distinct conformers of misfolded alpha-synuclein (maS) which form typical protein aggregates in the brain and represent key disease biomarkers. Thus, detection and characterization of intracerebral maS aggregates allow a definite diagnosis. The recent development of ultrasensitive assays enabled the detection of maS and other potential new biomarkers in peripheral tissues, although with several limitations. Here, the investigators propose to combine the expertise of leading and young researchers in the field of neurology, structural and molecular biology, biophysics and machine learning to perform ultrasensitive and multi-omics analyses of olfactory mucosa (OM), blood and urine of PD, MSA and DLB patients for detecting and characterizing key peripheral biomarkers allowing accurate disease recognition.
Eligibility
Sex
ALL
Min age
—
Max age
—
Healthy volunteers
Accepted
Inclusion Criteria:
* PD (Postuma et al., 2015), MSA (Palma et al., 2018), DLB (McKeith et al., 2017), OND including acquired and hereditary ataxic syndrome with known etiology, progressive supranuclear palsy, corticobasal degeneration, and motor neuron disease.
Exclusion Criteria:
* na
Primary outcome measure(s)
Identify a predictive model for the diagnosis of PD, MSA and DLB — 3 years To identify a predictive model for the diagnosis of PD, MSA and DLB based on the integration of:
* Demographic and clinical: sex, age, comorbidities, disease duration and severity, current medications, cognitive status, the presence of bradykinesia, rigidity, tremors, orthostatic hypotension, autonomic failure, parkinsonism, visual hallucinations, cerebellar syndrome, dementia, rapid eye movement sleep behavior disorder;
* Instrumental data: MRI, dopamine-transporter single-photon emission computerized tomography (DAT-SPECT), iodine-131-meta-iodobenzylguanidine (MIBG), fluorodeoxyglucose positron emission tomography (FDG-PET);
* Results obtained from the biochemical, structural and RT-QuIC analyses of olfactory mucosa, blood and urine samples (gathered in detailed in the secondary outcomes measures paragraph).
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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