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

NCT ID: NCT04668898

Last Updated: 2025-04-16

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

203 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-04-01

Study Completion Date

2025-04-01

Brief Summary

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

Detailed Description

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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

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Parkinson Disease LRRK2 GBA Gene Mutation

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

OTHER

Study Groups

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LRRK2 Parkinson Disease

Individuals with LRRK2-related Parkinson Disease

No interventions assigned to this group

GBA Parkinson Disease

Individuals with GBA-related Parkinson Disease

No interventions assigned to this group

Idiopathic Parkinson Disease

Individuals with Idiopathic (without any known genetic cause) Parkinson Disease

No interventions assigned to this group

LRRK2 non-manifesting carriers

Individuals without Parkinson Disease who have a LRRK2 mutation

No interventions assigned to this group

GBA non-manifesting carriers

Individuals without Parkinson Disease who have a GBA mutation

No interventions assigned to this group

Healthy control

Individuals without a personal or family history (1st or 2nd degree) of a neurodegenerative disease

No interventions assigned to this group

Eligibility Criteria

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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.
Minimum Eligible Age

30 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Massachusetts General Hospital

OTHER

Sponsor Role collaborator

National Institute of Neurological Disorders and Stroke (NINDS)

NIH

Sponsor Role collaborator

Icahn School of Medicine at Mount Sinai

OTHER

Sponsor Role lead

Responsible Party

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Rachel Saunders-Pullman

Professor, Neurology

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Rachel Saunders-Pullman, MD, MPH

Role: PRINCIPAL_INVESTIGATOR

Icahn School of Medicine at Mount Sinai

Laurie Ozelius, PhD

Role: PRINCIPAL_INVESTIGATOR

Massachusetts General Hospital

Locations

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Mount Sinai-- Downtown Union Square

New York, New York, United States

Site Status

Countries

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United States

Provided Documents

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Document Type: Informed Consent Form

View Document

Other Identifiers

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1U01NS107016-01A1

Identifier Type: NIH

Identifier Source: secondary_id

View Link

GCO 17-1846

Identifier Type: -

Identifier Source: org_study_id

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