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

NCT ID: NCT04518059

Last Updated: 2025-07-01

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 184 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2019-03-12
• Study Completion Date: 2025-05-31

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).

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.

Conditions

Parkinson Disease; Parkinsonism; Dementia With Lewy Bodies; Multiple System Atrophy; Progressive Supranuclear Palsy; Corticobasal Degeneration

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

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)

punch skin biopsy

Intervention Type: PROCEDURE

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

punch skin biopsy

Intervention Type: PROCEDURE

An anesthetic medication is injected to numb the areas of skin and two samples of skin are obtained from punch biopsy.

Interventions

punch skin biopsy

An anesthetic medication is injected to numb the areas of skin and two samples of skin are obtained from punch biopsy.

Intervention Type: PROCEDURE

Eligibility 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.

• Minimum Eligible Age: 21 Years
• Maximum Eligible Age: 89 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Case Western Reserve University

OTHER

Sponsor Role: collaborator

National Institute of Neurological Disorders and Stroke (NINDS)

NIH

Sponsor Role: collaborator

National Institute of Allergy and Infectious Diseases (NIAID)

NIH

Sponsor Role: collaborator

Banner Health

OTHER

Sponsor Role: collaborator

University of Bologna

OTHER

Sponsor Role: collaborator

Universidad Autonoma de San Luis Potosí

OTHER

Sponsor Role: collaborator

University Hospitals Cleveland Medical Center

OTHER

Sponsor Role: lead

Responsible Party

Steven Gunzler, MD

Assistant Professor, Neurology

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Steven Gunzler, MD

Role: PRINCIPAL_INVESTIGATOR

University Hospitals Cleveland Medical Center and Case Western Reserve University

Chen Shu, PhD

Role: PRINCIPAL_INVESTIGATOR

University of Alabama at Birmingham

Zerui Wang, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Case Western Reserve University

Qingzhong Kong, PhD

Role: PRINCIPAL_INVESTIGATOR

Case Western Reserve University

Locations

University Hospitals Cleveland Medical Center

Cleveland, Ohio, United States

University Hospitals Suburban Health Center

South Euclid, Ohio, United States

Countries

United States

Other Identifiers

1U01NS112010-01

Identifier Type: NIH

Identifier Source: secondary_id

View Link

20181189

Identifier Type: -

Identifier Source: org_study_id