LRRK2, GBA and Other Genetic Biomarkers in Eastern European (Ashkenazi) Jews With and Without Parkinson's Disease

Study Overview
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Brief Summary
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Single site observational study focused on elucidating the genes and biochemical pathways involved in causing Parkinson disease.

Detailed Description
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This single site study, is enrolling Parkinson disease (PD) patients and their family members and is limited to participants of Ashkenazi (Eastern European) Jewish descent with GBA and LRRK2 mutations, or with 3 or more family members with PD. Follow-up will be for three years. Participants must be in the New York City area yearly and willing to come to Mount Sinai Downtown for yearly 2 hour study visits which include obtaining personal medical and family history information, blood, urine and spinal fluid samples, neurological exam and neuropsychiatric testing. De-identified data and samples will be securely stored at a central NIH-run repository for access by other researchers. Spinal fluid collection is encouraged but optional.

Official Title
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Dissecting Oligogenic Biomarkers in Ashkenazi Jews With Parkinson's Disease

Conditions
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Parkinson Disease, LRRK2, GBA Gene Mutation

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Parkinson disease patients and their family members and is limited to participants of Ashkenazi (Eastern European) Jewish descent with GBA and LRRK2 mutations, or with 3 or more family members with PD Participants must be local to the New York City area and willing to come to Mount Sinai Downtown for annual 2 hour study visits which include obtaining personal medical and family history information, blood, urine and spinal fluid samples, neurological exam and neuropsychiatric testing. Spinal fluid collection is encouraged but optional. Exclusion Criteria: -Patients who do not have Parkinson disease or family members of Ashkenazi (Eastern European) Jewish descent who either has a GBA or LRRK2 mutations OR who has 3 or more family members with PD.

Ages Eligible for Study
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Minimum Age: 30 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| LRRK2 Parkinson Disease<br>Individuals with LRRK2-related Parkinson Disease | |
| GBA Parkinson Disease<br>Individuals with GBA-related Parkinson Disease | |
| Idiopathic Parkinson Disease<br>Individuals with Idiopathic (without any known genetic cause) Parkinson Disease | |
| LRRK2 non-manifesting carriers<br>Individuals without Parkinson Disease who have a LRRK2 mutation | |
| GBA non-manifesting carriers<br>Individuals without Parkinson Disease who have a GBA mutation | |
| Healthy control<br>Individuals without a personal or family history (1st or 2nd degree) of a neurodegenerative disease | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Elucidate blood-based genetic biomarkers in Parkinson's disease | Discovery and validation of new blood-based genetic biomarkers (both DNA and expression-based) for Parkinson's disease | five years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Parkinson's disease, Parkinsonian Disorders, LRRK2, GBA, Movement Disorders, Neurodegenerative Diseases