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

Sponsor

Icahn School of Medicine at Mount Sinai (Other)

Overall Status

Recruiting

CT.gov ID

NCT04668898

Collaborator

Massachusetts General Hospital (Other), National Institute of Neurological Disorders and Stroke (NINDS) (NIH)

190

Enrollment

Location

58.1

Anticipated Duration (Months)

3.3

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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

Condition or Disease	Intervention/Treatment	Phase
Parkinson Disease LRRK2 GBA Gene Mutation

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 Design

Study Type:

Observational

Anticipated Enrollment :

190 participants

Observational Model:

Case-Control

Time Perspective:

Other

Official Title:

Dissecting Oligogenic Biomarkers in Ashkenazi Jews With Parkinson's Disease

Actual Study Start Date :

Apr 29, 2019

Anticipated Primary Completion Date :

Mar 1, 2024

Anticipated Study Completion Date :

Mar 1, 2024

Arms and Interventions

Arm	Intervention/Treatment
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

Outcome Measures

Primary Outcome Measures

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

Eligibility Criteria

Criteria

Ages Eligible for Study:

30 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

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.

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Mount Sinai-- Downtown Union Square	New York	New York	United States	11104

Sponsors and Collaborators

Icahn School of Medicine at Mount Sinai
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