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NCT Number: NCT07752355

Young Onset Parkinson's Disease Subtypes and Pathogenic Mechanisms

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.

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Key information

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

NYU Langone Health

New York, 10016, United States

Location status: Recruiting

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Exclusion criteria

  • 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

Treatment and study plan

Primary outcomes

  1. 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)

  2. Genetic test results

    Time frame: Baseline

    Proportion of YOPD participants with positive genetic testing for gene mutations in known PD-associated genes

  3. 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

Study contacts

Contact information is provided by the study sponsor or research team.

Kelly Astudillo

CONTACT

[email protected]

Mark Belio, MD, PhD

CONTACT

[email protected]

646-501-4367

Sponsors and collaborators

Lead sponsor

NYU Langone Health

Other

Collaborators

  • National Institute of Neurological Disorders and Stroke (NINDS)

Registry information

Acronym: YOPD

Important dates

Study start
2024
Primary completion
2028
Study completion
2028
First posted
Aug 7, 2026
Registry last updated
Aug 7, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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