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

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

Non Recruiting
30 years and older
All
Phase N/A

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Overview

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

Description

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.

Eligibility

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.

Study details
    Parkinson Disease
    LRRK2
    GBA Gene Mutation

NCT04668898

Icahn School of Medicine at Mount Sinai

20 August 2025

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