Young Onset Parkinson's Disease Subtypes and Pathogenic Mechanisms

NYU Langone Health250 enrolled

Overview

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.

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

250

Conditions

Young Onset Parkinson Disease Parkinson Disease

Eligibility

Medical Language ↔ Plain English

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

Outcomes

Primary Outcomes

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)

Time frame: Baseline

Genetic test results

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

Time frame: 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

Time frame: Baseline

Young Onset Parkinson's Disease Subtypes and Pathogenic Mechanisms

Overview

Conditions

Eligibility

Locations (1)

Outcomes

Primary Outcomes

Central Contacts