Young Onset Parkinson's Disease Subtypes and Pathogenic Mechanisms

NCT07752355 | Recruiting

• 1 other identifier: 23-00652
• Study Type: observational
• Target: 250
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Young Onset Parkinson Disease; Parkinson Disease

Keywords

Young Onset Parkinson Disease; Parkinson Disease; Early Onset Parkinson Disease; EOPD

Outcome Measures

Primary Outcomes (3)

• 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

Study Arms (3)

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

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• YOPD cohort:
• Male or female 18 years or older (inclusive) of any race and ethnicity
• 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
• Willingness to undergo a skin punch biopsy
• LOPD cohort:
• Male or female 18 years or older (inclusive) of any race and ethnicity
• Diagnosis of PD confirmed by a movement disorder specialist and with an age of onset after the age of 50 years
• Healthy Control cohort:
• Male or female 18 years or older (inclusive) of any race and ethnicity
• Never been diagnosed with PD as reported by medical history and as assessed by study PI

You may not qualify if:

• 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).
• Clinical history of autoimmune or chronic inflammatory disorder or exposure to chronic immunosuppressant or immunomodulatory medications.
• Pregnancy
• Dermatological conditions that would prevent performing skin punch biopsies

Sponsors & Collaborators

• NYU Langone Health: lead
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator

Study Sites (1)

NYU Langone Health

New York, New York, 10016, United States

RECRUITING

MeSH Terms

Conditions

Parkinsonian Disorders; Parkinson Disease

Condition Hierarchy (Ancestors)

Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Movement Disorders; Synucleinopathies; Neurodegenerative Diseases

Study Officials

• Giulietta Riboldi, MD, PhD

  NYU Langone Health

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Mark Belio, MD, PhD

CONTACT

646-501-4367; Mark.Belio@nyulangone.org

Kelly Astudillo

CONTACT

Kelly.Astudillo@nyulangone.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 3, 2026
• First Posted: August 7, 2026
• Study Start: February 28, 2024
• Primary Completion (Estimated): October 31, 2028
• Study Completion (Estimated): October 31, 2028
• Last Updated: August 7, 2026

Record last verified: 2026-08

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)