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

Dissecting Oligogenic Biomarkers in Ashkenazi Jews With Parkinson's Disease

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

Study Overview

• Status: Completed
• Conditions: Parkinson Disease; GBA Gene Mutation; LRRK2

Detailed 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.

• Study Type: Observational
• Enrollment (Actual): 203

Contacts and Locations

Study Locations

• United States
  • New York
    • New York, New York, United States, 11104
      • Mount Sinai-- Downtown Union Square

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 30 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Parkinson disease patients and their family members who are of Ashkenazi (Eastern European) Jewish descent who either have a GBA or LRRK2 mutations or who have 3 or more family members with PD.

Description

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 Plan

How is the study designed?

Number of groups / cohorts

6

Cohorts and Interventions

Group / Cohort
LRRK2 Parkinson Disease; Individuals with LRRK2-related Parkinson Disease
GBA Parkinson Disease; Individuals with GBA-related Parkinson Disease
Idiopathic Parkinson Disease; Individuals with Idiopathic (without any known genetic cause) Parkinson Disease
LRRK2 non-manifesting carriers; Individuals without Parkinson Disease who have a LRRK2 mutation
GBA non-manifesting carriers; Individuals without Parkinson Disease who have a GBA mutation
Healthy control; Individuals without a personal or family history (1st or 2nd degree) of a neurodegenerative disease

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Icahn School of Medicine at Mount Sinai
• Collaborators: Massachusetts General Hospital; National Institute of Neurological Disorders and Stroke (NINDS)
• Investigators: Principal Investigator: Rachel Saunders-Pullman, MD, MPH, Icahn School of Medicine at Mount Sinai; Principal Investigator: Laurie Ozelius, PhD, Massachusetts General Hospital

Study record dates

Study Major Dates

• Study Start (Actual): April 1, 2019
• Primary Completion (Actual): April 1, 2025
• Study Completion (Actual): April 1, 2025

Study Registration Dates

• First Submitted: December 9, 2020
• First Submitted That Met QC Criteria: December 9, 2020
• First Posted (Actual): December 16, 2020

Study Record Updates

• Last Update Posted (Actual): April 16, 2025
• Last Update Submitted That Met QC Criteria: April 11, 2025
• Last Verified: April 1, 2025

More Information

Terms related to this study

• Keywords: Movement Disorders; Parkinson's disease; Neurodegenerative Diseases; LRRK2; Parkinsonian Disorders; GBA
• Additional Relevant MeSH Terms: Synucleinopathies; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurodegenerative Diseases; Movement Disorders; Parkinsonian Disorders; Basal Ganglia Diseases; Parkinson Disease
• Other Study ID Numbers: GCO 17-1846; 1U01NS107016-01A1 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: Individual participant data that underlie the results reported in this article, after deidentification (text, tables, figures, and appendices).
• IPD Sharing Time Frame: Clinical data deposited in Parkinson Disease Biomarker Program DMR after study visit
• IPD Sharing Access Criteria: Investigators whose proposed use of the data has been approved by an independent review committee ("learned intermediary") identified for this purpose. The type of analysis will be for individual participant data meta-analysis. Data are available indefinitely at: https://pdbp-demo.cit.nih.gov/researchers.
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No