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

June 26, 2025 updated by: Steven Gunzler, MD, University Hospitals Cleveland Medical Center

Assessing Skin Biomarkers for Preclinical Diagnosis of PD and Non-PD Parkinsonism

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).

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Completed

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

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 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.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Actual)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
184

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Contact Backup

Study Locations

  • United States
    • Ohio
      • Cleveland, Ohio, United States, 44106
        • University Hospitals Cleveland Medical Center
      • South Euclid, Ohio, United States, 44121
        • University Hospitals Suburban Health Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

17 years to 85 years (Adult, Older Adult)

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.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
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.

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
Amount of alpha-synuclein in the skin
Time Frame: Cross-sectional at baseline
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
Time Frame: Baseline, 1 year, and optional 2 year assessment
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
Time Frame: Baseline, 1 year, and optional 2 year assessment
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
Time Frame: Baseline, 1 year, and optional 2 year assessment
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
Time Frame: Baseline, 1 year, and optional 2 year assessment
0% to 100% rating scale score. Higher score is better.
Baseline, 1 year, and optional 2 year assessment

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
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.
Baseline, 1 year, and optional 2 year assessment
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.
Baseline, 1 year, and optional 2 year assessment
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.
Baseline, 1 year, and optional 2 year assessment
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.
Baseline, 1 year, and optional 2 year assessment
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.
Baseline, 1 year, and optional 2 year assessment
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.
Baseline, 1 year, and optional 2 year assessment
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
Baseline, optional 1 year assessment, and optional 2 year assessment
Change in PDQ-39
Time Frame: Baseline, optional 1 year assessment, and optional 2 year assessment
39 item health status questionnaire. Lower is better.
Baseline, optional 1 year assessment, and optional 2 year assessment

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
University Hospitals Cleveland Medical Center

Collaborators

Collaborators

An organization other than the sponsor that provides support for a clinical study. This support may include activities related to funding, design, implementation, data analysis, or reporting.
National Institute of Allergy and Infectious Diseases (NIAID)
University of Bologna
National Institute of Neurological Disorders and Stroke (NINDS)
Case Western Reserve University
Universidad Autonoma de San Luis Potosí
Banner Health

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • 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

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
March 12, 2019

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
May 31, 2025

Study Completion (Actual)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
May 31, 2025

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
July 31, 2020

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
August 14, 2020

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
August 19, 2020

Study Record Updates

Last Update Posted (Estimated)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
July 1, 2025

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
June 26, 2025

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
June 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • 20181189
  • 1U01NS112010-01 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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