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

Completed

• Conditions: Parkinson Disease; LRRK2; GBA Gene Mutation

• Registration Number: NCT04668898
• Lead Sponsor: Icahn School of Medicine at Mount Sinai

Brief Summary

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

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 Timeline

• Study Start: 2019-04-01
• Study First Submitted: 2020-12-09
• Study First Submitted QC: 2020-12-09
• Study First Posted: 2020-12-16
• Status Verified: 2025-04
• Primary Completion: 2025-04-01
• Study Completion: 2025-04-01
• Last Update Submitted: 2025-04-11
• Last Update Posted: 2025-04-16

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 203

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Elucidate blood-based genetic biomarkers in Parkinson's disease	five years	Discovery and validation of new blood-based genetic biomarkers (both DNA and expression-based) for Parkinson's disease

Trial Locations

Locations (1)

Mount Sinai-- Downtown Union Square; 🇺🇸 New York, New York, United States