Young Onset Parkinson's Disease Subtypes and Pathogenic Mechanisms (YOPD)

August 10, 2026 updated by: NYU Langone Health
Young Onset Parkinson's disease (YOPD) refers to a group of patients in which the disease starts earlier in life (before the age of 50 years) and has a profound impact on most of patient's life. Current knowledge regarding the mechanisms leading to development of Parkinson's disease in younger individuals is lacking, but their understanding is crucial for the successful design of therapeutic strategies and stratifying patients for clinical trials. With this research the investigators aim to clarify the contribution of relevant biological processes in patients with Young onset Parkinson's disease to help understanding disease mechanisms and biomarkers.

Study Overview

Status

Status

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

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.

Detailed Description

With the present project the investigators propose to study clinical and biological data (from peripheral blood and skin punch biopsy) in subjects with Young and Late Onset Parkinson's disease as well as non-affected subjects (controls) to identify characteristic biological traits for each for this groups.

For each participant, the investigators will collect information about demographic data, clinical data related to the symptoms of Parkinson's disease through standard questionnaire, a clinical exam, and standard interview. A blood sample (from a peripheral vein) and skin punch biopsy will be collected to study genetic and biological markers of the disease. The study duration for each participant is of one in-person visit at the study center.

In a subgroup of subjects, biological data from the lumbar puncture will be collected and analyzed as well.

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 (Estimated)

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.
250

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
    • New York
      • New York, New York, United States, 10016
        • Recruiting
        • NYU Langone Health

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

  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Male or Female subjects with Parkinson disease and non-affected subjects 18 years of age or older.

Description

Inclusion Criteria:

YOPD cohort:

  1. Male or female 18 years or older (inclusive) of any race and ethnicity
  2. Diagnosis of Parkinson's disease (PD) confirmed by a movement disorder specialist and with an age of onset of less than or equal to the age of 50 years old
  3. Willingness to undergo a skin punch biopsy

LOPD cohort:

  1. Male or female 18 years or older (inclusive) of any race and ethnicity
  2. Diagnosis of PD confirmed by a movement disorder specialist and with an age of onset after the age of 50 years

Healthy Control cohort:

  1. Male or female 18 years or older (inclusive) of any race and ethnicity
  2. Never been diagnosed with PD as reported by medical history and as assessed by study PI

Exclusion Criteria:

  1. Diagnosis of atypical parkinsonism (i.e. progressive supranuclear palsy, corticobasal degeneration, multiple system atrophy) or secondary parkinsonism (i.e. normal pressure hydrocephalus, drug-induced parkinsonism).
  2. Clinical history of autoimmune or chronic inflammatory disorder or exposure to chronic immunosuppressant or immunomodulatory medications.
  3. Pregnancy
  4. Dermatological conditions that would prevent performing skin punch biopsies

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

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.
Young-Onset Parkinson's Disease (YOPD) Patients

Clinical assessment:

  • History of PD
  • Medical history
  • Assessment of motor and non-motor symptoms of PD through standard rating scales

Biological samples:

  • Peripheral blood sample for the study of genetic and multi-omics data
  • Skin punch biopsy (3mm) for the assessment of the Alpha-Synuclein seeding amplification (SAA) Assay

For a sub-cohort of subjects:

- Lumbar puncture for the collection of spinal fluid for the study of biological profiles
Late-Onset Parkinson's Disease (LOPD) Patients

Clinical assessment:

  • History of PD
  • Medical history
  • Assessment of motor and non-motor symptoms of PD through standard rating scales

Biological samples:

  • Peripheral blood sample for the study of genetic and multi-omics data
  • Skin punch biopsy (3mm) for the assessment of the Alpha-Synuclein seeding amplification (SAA) Assay

For a sub-cohort of subjects:

Lumbar puncture for the collection of spinal fluid for the study of biological profiles
Healthy Controls

Clinical assessment:

  • Medical history
  • Assessment of motor and non-motor symptoms of PD through standard rating scales

Biological samples:

  • Peripheral blood sample for the study of genetic and multi-omics data
  • Skin punch biopsy (3mm) for the assessment of the Alpha-Synuclein seeding amplification (SAA) Assay

For a sub-cohort of subjects:

Lumbar puncture for the collection of spinal fluid for the study of biological profiles

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
Alpha-Synuclein seeding amplification (SAA) Assay Results
Time Frame: Baseline
Proportion of YOPD participants with positive of alpha-synuclein SAA in central (cerebrospinal fluid) peripheral biospecimens (skin biopsy)
Baseline
Genetic test results
Time Frame: Baseline
Proportion of YOPD participants with positive genetic testing for gene mutations in known PD-associated genes
Baseline
Differences in clinical profiles
Time Frame: Baseline
Differences of the clinical profiles related to motor and non-motor symptoms of PD in YOPD as measured by standard clinical rating scales
Baseline

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.
NYU Langone Health

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 Neurological Disorders and Stroke (NINDS)

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: Giulietta Riboldi, MD, PhD, NYU Langone Health

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.
February 28, 2024

Primary Completion (Estimated)

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.
October 31, 2028

Study Completion (Estimated)

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.
October 31, 2028

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).
August 3, 2026

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 3, 2026

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 7, 2026

Study Record Updates

Last Update Posted (Actual)

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.
August 12, 2026

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.
August 10, 2026

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.
August 1, 2026

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.
  • 23-00652

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

IPD Plan Description

This is an Observational study that is voluntarily registered, and is not subject to mandatory results reporting under FDAAA 801/the Final Rule. This observational study is registered specifically to increase visibility and boost recruitment.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

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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