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

NCT04668898 | Completed

• 2 other identifiers: GCO 17-18461U01NS107016-01A1
• Study Type: observational
• Target: 203
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Parkinson Disease; LRRK2; GBA Gene Mutation

Keywords

Parkinson's disease; Parkinsonian Disorders; LRRK2; GBA; Movement Disorders; Neurodegenerative Diseases

Outcome Measures

Primary Outcomes (1)

• Elucidate blood-based genetic biomarkers in Parkinson's disease

  Discovery and validation of new blood-based genetic biomarkers (both DNA and expression-based) for Parkinson's disease

  five years

Study Arms (6)

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

Eligibility Criteria

• Age: 30 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Parkinson disease patients and their family members who are of Ashkenazi (Eastern European) Jewish descent who either have a GBA or LRRK2 mutations or who have 3 or more family members with PD.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Icahn School of Medicine at Mount Sinai: lead
• Massachusetts General Hospital: collaborator
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator

Study Sites (1)

Mount Sinai-- Downtown Union Square

New York, New York, 11104, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

The study team will be collecting DNA (ACD tubes), serum, plasma, RNA, peripheral blood monocytes, and urine. In a select group of patients, the study team will be collecting cerebrospinal fluid through a lumbar puncture. Samples are deposited in the Parkinson's Disease Biomarker Program repository.

MeSH Terms

Conditions

Parkinson Disease; Parkinsonian Disorders; Movement Disorders; Neurodegenerative Diseases

Condition Hierarchy (Ancestors)

Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Synucleinopathies

Study Officials

• Rachel Saunders-Pullman, MD, MPH

  Icahn School of Medicine at Mount Sinai

  PRINCIPAL INVESTIGATOR

• Laurie Ozelius, PhD

  Massachusetts General Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor, Neurology

Study Record Dates

• First Submitted: December 9, 2020
• First Posted: December 16, 2020
• Study Start: April 1, 2019
• Primary Completion: April 1, 2025
• Study Completion: April 1, 2025
• Last Updated: April 16, 2025

Record last verified: 2025-04

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL
• Time Frame: Clinical data deposited in Parkinson Disease Biomarker Program DMR after study visit
• Access Criteria: Investigators whose proposed use of the data has been approved by an independent review committee ("learned intermediary") identified for this purpose. The type of analysis will be for individual participant data meta-analysis. Data are available indefinitely at: https://pdbp-demo.cit.nih.gov/researchers.

Locations

US (1)