Parkinson Disease, Young Onset Parkinson Disease
Conditions
Keywords
Young Onset Parkinson Disease, Parkinson Disease, Early Onset Parkinson Disease, EOPD
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.
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.
Interventions
None listed
Sponsors
NYU Langone Health
National Institute of Neurological Disorders and Stroke (NINDS)
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Alpha-Synuclein seeding amplification (SAA) Assay Results | Baseline | Proportion of YOPD participants with positive of alpha-synuclein SAA in central (cerebrospinal fluid) peripheral biospecimens (skin biopsy) |
| Genetic test results | Baseline | Proportion of YOPD participants with positive genetic testing for gene mutations in known PD-associated genes |
| Differences in clinical profiles | Baseline | Differences of the clinical profiles related to motor and non-motor symptoms of PD in YOPD as measured by standard clinical rating scales |
Countries
United States
Contacts
CONTACTMark Belio
CONTACTKelly Astudillo
PRINCIPAL_INVESTIGATORGiulietta Riboldi, MD, PhD
NYU Langone Health
Outcome results
None listed