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

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: Recruiting
• Conditions: Parkinson Disease; Young Onset Parkinson Disease

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: Observational
• Enrollment (Estimated): 250

Contacts and Locations

• Study Contact: Name: Kelly Astudillo; Email: Kelly.Astudillo@nyulangone.org
• Study Contact Backup: Name: Mark Belio; Phone Number: 646-501-4367; Email: Mark.Belio@nyulangone.org

Study Locations

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

Participation Criteria

Eligibility Criteria

• 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

How is the study designed?

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort
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

Outcome Measure	Measure Description	Time Frame
Alpha-Synuclein seeding amplification (SAA) Assay Results	Proportion of YOPD participants with positive of alpha-synuclein SAA in central (cerebrospinal fluid) peripheral biospecimens (skin biopsy)	Baseline
Genetic test results	Proportion of YOPD participants with positive genetic testing for gene mutations in known PD-associated genes	Baseline
Differences in clinical profiles	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

• Sponsor: NYU Langone Health
• Collaborators: National Institute of Neurological Disorders and Stroke (NINDS)
• Investigators: Principal Investigator: Giulietta Riboldi, MD, PhD, NYU Langone Health

Study record dates

Study Major Dates

• Study Start (Actual): February 28, 2024
• Primary Completion (Estimated): October 31, 2028
• Study Completion (Estimated): October 31, 2028

Study Registration Dates

• First Submitted: August 3, 2026
• First Submitted That Met QC Criteria: August 3, 2026
• First Posted (Actual): August 7, 2026

Study Record Updates

• Last Update Posted (Actual): August 12, 2026
• Last Update Submitted That Met QC Criteria: August 10, 2026
• Last Verified: August 1, 2026

More Information

Terms related to this study

• Keywords: Parkinson Disease; Young Onset Parkinson Disease; Early Onset Parkinson Disease; EOPD
• Additional Relevant MeSH Terms: Synucleinopathies; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurodegenerative Diseases; Movement Disorders; Basal Ganglia Diseases; Parkinson Disease; Parkinsonian Disorders
• Other Study ID 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