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| ID | Type | Description | Link |
|---|---|---|---|
| 1U01NS112010-01 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| Case Western Reserve University | OTHER |
| National Institute of Neurological Disorders and Stroke (NINDS) | NIH |
| National Institute of Allergy and Infectious Diseases (NIAID) | NIH |
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The purpose of this study is to determine whether identification of misfolded proteins in the skin will help to determine what sort of parkinsonism someone has. We seek to demonstrate whether someone has a synucleinopathy such as Parkinson's disease (PD), multiple system atrophy (MSA), or dementia with Lewy bodies(DLB), as opposed to a tauopathy such as progressive supranuclear palsy (PSP) or corticobasal degeneration (CBD) or no parkinsonism at all (control).
This is a clinical research study for patients with parkinsonism, including Parkinson's disease, progressive supranuclear palsy, corticobasal degeneration, multiple system atrophy, and dementia with Lewy bodies. Parkinsonism can be difficult to diagnose, especially in the early stages of the disease. Skin punch biopsy could be a useful and way to diagnose and measure the severity of these conditions. Given that there currently is no proven way to determine that someone has a synucleinopathy such as PD and not a tauopathy, this is a novel study that may lead to better ways to diagnose people with parkinsonism. The purpose of the study is to identify changes on a skin punch biopsy, in which small samples of skin are removed and sent to the laboratory for examination. We are seeking to measure the amount of misfolded alpha-synuclein in someone's skin. Participation will last between 1 and 2 years and will involve between 2 and 4 visits. Visits will include a physical examination, questionnaires, a memory test, blood draws and saliva collection, and a single visit for skin punch biopsies. We will also be looking to enroll volunteers to serve as "controls," who do not have any neurological illness.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Parkinsonism Group | Participants with Parkinson's disease (PD), dementia with Lewy bodies (DLB), multiple system atrophy (MSA), progressive supranuclear palsy (PSP), and corticobasal degeneration (CBD) |
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| Control Group | Participants without parkinsonism |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| punch skin biopsy | Procedure | An anesthetic medication is injected to numb the areas of skin and two samples of skin are obtained from punch biopsy. |
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| Measure | Description | Time Frame |
|---|---|---|
| Amount of alpha-synuclein in the skin | Alpha-synuclein will be measured by RT-QuIC and sPMCA | Cross-sectional at baseline |
| Change in PSPRS measures of progressive supranuclear palsy (PSP) severity in people with PSP | Questionnaire and examination. Lower scores are better. | Baseline, 1 year, and optional 2 year assessment |
| Change in UMSARS measures of multiple system atrophy (MSA) severity in people with MSA | Questionnaire and examination. Lower scores are better. | Baseline, 1 year, and optional 2 year assessment |
| Change in Hoehn and Yahr (H&Y) and modified H&Y Scores | Zero to 5 parkinsonism rating scale score. Lower score is better. | Baseline, 1 year, and optional 2 year assessment |
| Change in Schwab and England (S&E) Score | 0% to 100% rating scale score. Higher score is better. | Baseline, 1 year, and optional 2 year assessment |
| Measure | Description | Time Frame |
|---|---|---|
| Change in Montreal Cognitive Assessment (MoCA) | Zero to 30 cognitive rating scale score. Higher score is better. | Baseline, 1 year, and optional 2 year assessment |
| Change in Epworth Sleepiness Scale (ESS) |
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Inclusion Criteria:
Exclusion Criteria:
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People with parkinsonism, Parkinson's disease (PD), dementia with Lewy bodies (DLB), multiple system atrophy (MSA), progressive supranuclear palsy (PSP), and corticobasal degeneration (CBD), and also controls without parkinsonism.
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| Name | Affiliation | Role |
|---|---|---|
| Steven Gunzler, MD | University Hospitals Cleveland Medical Center and Case Western Reserve University | Principal Investigator |
| Chen Shu, PhD | University of Alabama at Birmingham | Principal Investigator |
| Zerui Wang, MD, PhD | Case Western Reserve University | Principal Investigator |
| Qingzhong Kong, PhD | Case Western Reserve University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University Hospitals Cleveland Medical Center | Cleveland | Ohio | 44106 | United States | ||
| University Hospitals Suburban Health Center |
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| Banner Health |
| OTHER |
| University of Bologna | OTHER |
| Universidad Autonoma de San Luis Potosà | OTHER |
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Skin and blood samples are collected and used for analysis in the Case Western Reserve University Department of Pathology. Blood samples are obtained for NIH affiliated biobanks BioSEND/PDBP and RUCDR.
Zero to 24 sleepiness rating scale score. Lower score is better.
| Baseline, 1 year, and optional 2 year assessment |
| Change in Hamilton depression scale | 17 item depression rating scale score. Lower score is better. | Baseline, 1 year, and optional 2 year assessment |
| Change in Hamilton anxiety scale | 14 item depression rating scale score. Lower score is better. | Baseline, 1 year, and optional 2 year assessment |
| Change in REM Behavior Disorder Questionnaire | 10 item depression rating scale score. Lower score is better. | Baseline, 1 year, and optional 2 year assessment |
| Change in blood pressure with orthostatic posture | Blood pressure from lying down to sitting to standing. Smaller drop in blood pressure is better. | Baseline, 1 year, and optional 2 year assessment |
| Amount of alpha-synuclein in the blood | Alpha-synuclein will be measured in the blood sample | Baseline, optional 1 year assessment, and optional 2 year assessment |
| Change in PDQ-39 | 39 item health status questionnaire. Lower is better. | Baseline, optional 1 year assessment, and optional 2 year assessment |
| South Euclid |
| Ohio |
| 44121 |
| United States |
| ID | Term |
|---|---|
| D010300 | Parkinson Disease |
| D020734 | Parkinsonian Disorders |
| D020961 | Lewy Body Disease |
| D019578 | Multiple System Atrophy |
| D013494 | Supranuclear Palsy, Progressive |
| D000088282 | Corticobasal Degeneration |
| C565324 | Parkinson Disease 4, Autosomal Dominant Lewy Body |
| ID | Term |
|---|---|
| D001480 | Basal Ganglia Diseases |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D009069 | Movement Disorders |
| D000080874 | Synucleinopathies |
| D019636 | Neurodegenerative Diseases |
| D003704 | Dementia |
| D019965 | Neurocognitive Disorders |
| D001523 | Mental Disorders |
| D054969 | Primary Dysautonomias |
| D001342 | Autonomic Nervous System Diseases |
| D009886 | Ophthalmoplegia |
| D015835 | Ocular Motility Disorders |
| D003389 | Cranial Nerve Diseases |
| D024801 | Tauopathies |
| D010243 | Paralysis |
| D009461 | Neurologic Manifestations |
| D005128 | Eye Diseases |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
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