LRRK2, GBA and Other Genetic Biomarkers in Eastern Europe... | NCT04668898

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

NCT04668898

Sponsor

Icahn School of Medicine at Mount Sinai

Status

Completed

Last Update Posted

Apr 16, 2025Actual

Enrollment

203Actual

Phase

Not provided

Conditions

Parkinson Disease
LRRK2
GBA Gene Mutation

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

Large Document Module

Document Has No Statistical Analysis Plan (SAP)

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
1U01NS107016-01A1	U.S. NIH Grant/Contract		View source

Status Module

Record Verification Date

Apr 2025

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Apr 1, 2019Actual

Primary Completion Date

Apr 1, 2025Actual

Completion Date

Apr 1, 2025Actual

First Submitted Date

Dec 9, 2020

First Submission Date that Met QC Criteria

Dec 9, 2020

First Posted Date

Dec 16, 2020Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Apr 11, 2025

Last Update Posted Date

Apr 16, 2025Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

Rachel Saunders-Pullman, Professor, Neurology, Icahn School of Medicine at Mount SinaiPrincipal Investigator

Lead Sponsor

Icahn School of Medicine at Mount SinaiOTHER

Collaborators

Name	Class
Massachusetts General Hospital	OTHER
National Institute of Neurological Disorders and Stroke (NINDS)	NIH

Oversight Module

Has Data Monitoring Committee (DMC)

Not provided

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief 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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

203Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
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

Interventions

Not provided

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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.

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

30 Years

Maximum Age

Not provided

Standard Ages

AdultOlder Adult

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.

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Rachel Saunders-Pullman, MD, MPH	Icahn School of Medicine at Mount Sinai	Principal Investigator
Laurie Ozelius, PhD	Massachusetts General Hospital	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Mount Sinai-- Downtown Union Square		New York	New York	11104	United States

IPD Sharing Statement Module

Plan to Share IPD

Yes

Description

Individual participant data that underlie the results reported in this article, after deidentification (text, tables, figures, and appendices).

Types

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.

URL

Not provided

Type	Includes Protocol	Includes SAP	Includes ICF	Document Label	Document Date	Document Uploaded Date	Document File Name
ICF	No	No	Yes	Informed Consent Form	Feb 18, 2025	Apr 11, 2025	ICF_000.pdf

Condition Browse Module

MeSH Terms

ID	Term
D010300	Parkinson Disease
D020734	Parkinsonian Disorders
D009069	Movement Disorders
D019636	Neurodegenerative Diseases

Ancestor Terms

ID	Term
D001480	Basal Ganglia Diseases
D001927	Brain Diseases
D002493	Central Nervous System Diseases
D009422	Nervous System Diseases

Browse Leaves

Not provided

Browse Branches

Not provided

Description

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.