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

Mount Sinai Health System

Status

Completed

Conditions

Parkinson Disease

LRRK2

GBA Gene Mutation

Study type

Observational

Funder types

Other

NIH

Identifiers

NCT04668898

1U01NS107016-01A1 (U.S. NIH Grant/Contract)

GCO 17-1846

Details and patient eligibility

About

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

Full 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.

Enrollment

203 patients

Sex

All

Ages

30+ years old

Volunteers

Accepts Healthy Volunteers

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.