NCT04668898

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

Dissecting Oligogenic Biomarkers in Ashkenazi Jews With Parkinson's Disease

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 203 (actual)
• Sponsor: Icahn School of Medicine at Mount Sinai · Academic / Other
• Sex: All
• Age: 30 Years
• Healthy volunteers: Accepted

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.

Conditions

• Parkinson Disease
• LRRK2
• GBA Gene Mutation

Timeline

• Start date: 2019-04-01
• Primary completion: 2025-04-01
• Completion: 2025-04-01
• First posted: 2020-12-16
• Last updated: 2025-04-16

Locations

1 site across 1 country: United States