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Misfolded Proteins in the Skin of People With Parkinson's Disease and Other Parkinsonism

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ClinicalTrials.gov Identifier: NCT04518059
Recruitment Status : Recruiting
First Posted : August 19, 2020
Last Update Posted : April 12, 2022
Sponsor:
Collaborators:
Case Western Reserve University
National Institute of Neurological Disorders and Stroke (NINDS)
National Institute of Allergy and Infectious Diseases (NIAID)
Banner Health
University of Bologna
Universidad Autonoma de San Luis Potosí
Information provided by (Responsible Party):
Steven Gunzler, MD, University Hospitals Cleveland Medical Center

Study Description
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Brief Summary:
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).

Condition or disease Intervention/treatment
Parkinson Disease Parkinsonism Dementia With Lewy Bodies Multiple System Atrophy Progressive Supranuclear Palsy Corticobasal Degeneration Procedure: punch skin biopsy

Detailed Description:
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 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.
Study Design
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Study Type : Observational [Patient Registry]
Estimated Enrollment : 250 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 2 Years
Official Title: Assessing Skin Biomarkers for Preclinical Diagnosis of PD and Non-PD Parkinsonism
Actual Study Start Date : March 12, 2019
Estimated Primary Completion Date : May 31, 2024
Estimated Study Completion Date : May 31, 2024

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort Intervention/treatment
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)
 Procedure: punch skin biopsy
An anesthetic medication is injected to numb the areas of skin and two samples of skin are obtained from punch biopsy.
Control Group
Participants without parkinsonism
 Procedure: punch skin biopsy
An anesthetic medication is injected to numb the areas of skin and two samples of skin are obtained from punch biopsy.


Outcome Measures
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Primary Outcome Measures :
  1. Amount of alpha-synuclein in the skin [ Time Frame: Cross-sectional at baseline ]
    Alpha-synuclein will be measured by RT-QuIC and sPMCA

  2. Change in PSPRS measures of progressive supranuclear palsy (PSP) severity in people with PSP [ Time Frame: Baseline, 1 year, and optional 2 year assessment ]
    Questionnaire and examination. Lower scores are better.

  3. Change in UMSARS measures of multiple system atrophy (MSA) severity in people with MSA [ Time Frame: Baseline, 1 year, and optional 2 year assessment ]
    Questionnaire and examination. Lower scores are better.

  4. Change in Hoehn and Yahr (H&Y) and modified H&Y Scores [ Time Frame: Baseline, 1 year, and optional 2 year assessment ]
    Zero to 5 parkinsonism rating scale score. Lower score is better.

  5. Change in Schwab and England (S&E) Score [ Time Frame: Baseline, 1 year, and optional 2 year assessment ]
    0% to 100% rating scale score. Higher score is better.


Secondary Outcome Measures :
  1. Change in Montreal Cognitive Assessment (MoCA) [ Time Frame: Baseline, 1 year, and optional 2 year assessment ]
    Zero to 30 cognitive rating scale score. Higher score is better.

  2. Change in Epworth Sleepiness Scale (ESS) [ Time Frame: Baseline, 1 year, and optional 2 year assessment ]
    Zero to 24 sleepiness rating scale score. Lower score is better.

  3. Change in Hamilton depression scale [ Time Frame: Baseline, 1 year, and optional 2 year assessment ]
    17 item depression rating scale score. Lower score is better.

  4. Change in Hamilton anxiety scale [ Time Frame: Baseline, 1 year, and optional 2 year assessment ]
    14 item depression rating scale score. Lower score is better.

  5. Change in REM Behavior Disorder Questionnaire [ Time Frame: Baseline, 1 year, and optional 2 year assessment ]
    10 item depression rating scale score. Lower score is better.

  6. Change in blood pressure with orthostatic posture [ Time Frame: Baseline, 1 year, and optional 2 year assessment ]
    Blood pressure from lying down to sitting to standing. Smaller drop in blood pressure is better.

  7. Amount of alpha-synuclein in the blood [ Time Frame: Baseline, optional 1 year assessment, and optional 2 year assessment ]
    Alpha-synuclein will be measured in the blood sample

  8. Change in PDQ-39 [ Time Frame: Baseline, optional 1 year assessment, and optional 2 year assessment ]
    39 item health status questionnaire. Lower is better.


Biospecimen Retention:   Samples With DNA
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.

Eligibility Criteria
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Ages Eligible for Study:   21 Years to 89 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
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.
Criteria

Inclusion Criteria:

  • Age 21 years old and age <90 years of age at the time of the baseline visit 1
  • Age of diagnosis at least 40 years old for PD, DLB, and PSP and at least 30 years old for MSA
  • A confirmed diagnosis of PD, PSP, CBD, MSA, DLB, or healthy control
  • Montreal Cognitive Assessment (MoCA) > 10 at the outset of the study

Exclusion Criteria:

  • Age 90 or above
  • Allergy to local anesthetic
  • History of deep brain stimulation (DBS) or other brain surgery prior to Visit 1
  • For PD or DLB diagnoses, any other neurodegenerative or central nervous system process that would interfere with examination
  • For PD or DLB, history of negative DATscan
  • Use of investigational drugs or devices within 60 days prior to baseline visit (except for dietary supplements)
  • In control subjects, family history of a neurodegenerative disease in a first degree or second degree blood relative
  • History of schizophrenia
  • History of antipsychotic medication use or exposure in controls or history of antipsychotic medication leading to parkinsonism (drug induced parkinsonism) in the parkinsonism group
  • Blood clotting disorder
  • On multiple (more than one) antiplatelet and/or anticoagulant blood thinner medications in combination (except for aspirin if it can be safely held for 1 week)
  • Any other medical, psychiatric, or cognitive illness that in the investigator's opinion would interfere with cooperation or ability to undergo the study procedures.
Contacts and Locations
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Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04518059


Contacts
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Contact: Ashley Hawkins 216-844-1800 Ashley.Hawkins2@UHhospitals.org
Contact: Steven Gunzler, MD 216-844-8685

Locations
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United States, Ohio
University Hospitals Cleveland Medical Center Recruiting
Cleveland, Ohio, United States, 44106
Contact: Steven Gunzler, MD         
Principal Investigator: Steven Gunzler, MD         
University Hospitals Suburban Health Center Recruiting
South Euclid, Ohio, United States, 44121
Contact: Steven Gunzler, MD         
Principal Investigator: Steven Gunzler, MD         
Sponsors and Collaborators
University Hospitals Cleveland Medical Center
Case Western Reserve University
National Institute of Neurological Disorders and Stroke (NINDS)
National Institute of Allergy and Infectious Diseases (NIAID)
Banner Health
University of Bologna
Universidad Autonoma de San Luis Potosí
Investigators
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Principal Investigator: 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
More Information
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Responsible Party: Steven Gunzler, MD, Assistant Professor, Neurology, University Hospitals Cleveland Medical Center
ClinicalTrials.gov Identifier: NCT04518059    
Other Study ID Numbers: 20181189
1U01NS112010-01 ( U.S. NIH Grant/Contract )
First Posted: August 19, 2020    Key Record Dates
Last Update Posted: April 12, 2022
Last Verified: April 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Steven Gunzler, MD, University Hospitals Cleveland Medical Center:
Parkinson disease
Parkinson's disease
dementia with Lewy bodies
multiple system atrophy
progressive supranuclear palsy
 corticobasal degeneration
biomarker
parkinsonism
alpha-synuclein
Additional relevant MeSH terms:
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Parkinson Disease
Dementia
Multiple System Atrophy
Shy-Drager Syndrome
Supranuclear Palsy, Progressive
Parkinsonian Disorders
Lewy Body Disease
Atrophy
Basal Ganglia Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Movement Disorders
Synucleinopathies
Neurodegenerative Diseases
 Neurocognitive Disorders
Mental Disorders
Pathological Conditions, Anatomical
Primary Dysautonomias
Autonomic Nervous System Diseases
Hypotension
Vascular Diseases
Cardiovascular Diseases
Ophthalmoplegia
Ocular Motility Disorders
Cranial Nerve Diseases
Tauopathies
Paralysis
Neurologic Manifestations
Eye Diseases