Fox BioNet Project: LRRK2-002

Study Overview
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Brief Summary
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The overall objective of this study is to determine whether LRRK2 kinase activity and/or mitochondrial DNA (mtDNA) damage could serve as potential biomarkers in PD.

Detailed Description
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Primary Objectives: Assess the levels of phosphorylated LRRK2 and LRRK2-phosphorylated Rabs, as measures of LRRK2 kinase activity, in PBMCs and neutrophils from LRRK2 PD, idiopathic PD, non-manifesting LRRK2 mutation carriers and healthy controls. Assess the levels of mtDNA damage in buffy coat from LRRK2 PD, idiopathic PD, non-manifesting LRRK2 mutation carriers and healthy controls. Correlate LRRK2 kinase activity to mtDNA damage in blood from LRRK2 PD, idiopathic-PD, non-manifesting LRRK2 mutation carriers and healthy controls. Secondary Objectives: To assess the ability of the network to efficiently conduct a study involving biosample collection for PD research. Efficiency will be assessed using measures of the time taken to meet specific milestones within the study. To assess the ability of the network to collect high quality biospecimens adhering to agreed-upon, standardized protocols To gauge the willingness of participants to participate in subsequent Fox BioNet studies

Official Title
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FoxBioNet: LRRK2-002: Detection of LRRK2 Activity in Human Biospecimens

Conditions
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Parkinson Disease

Intervention / Treatment
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* Procedure: Biofluid samplings


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: LRRK2 Parkinson Disease (PD) Subjects: Patients must have confirmed LRRK2 mutation Patients must meet the MDS criteria for Parkinson's disease Disease duration: any Male or female age 30 years or older at time of PD diagnosis. Idiopathic PD Subjects: Patients must meet the MDS criteria for Parkinson's disease. Disease duration: any Male or female age 30 years or older at time of PD diagnosis. Non-manifesting LRRK2 mutation carriers: Patients must have confirmed LRRK2 mutation Male or female age 30 years or older at Screening. Control (C) Subjects: Male or female age 30 years or older at Screening. Exclusion Criteria: LRRK2 Parkinson Disease (PD) Subjects: Inability to provide informed consent Participation in a blinded clinical trial of any kind or an unblinded trial of an investigational product that is not currently approved for use in humans. Treatment for cancer in the last 5 years. Idiopathic PD Subjects: Inability to provide informed consent Participation in a blinded clinical trial of any kind or an unblinded trial of an investigational product that is not currently approved for use in humans. Treatment for cancer in the last 5 years. Non-manifesting LRRK2 mutation carriers: Inability to provide informed consent Participation in a blinded clinical trial of any kind or an unblinded trial of an investigational product that is not currently approved for use in humans. Treatment for cancer in the last 5 years. Control Subjects: Inability to provide informed consent Participation in a blinded clinical trial of any kind or an unblinded trial of an investigational product that is not currently approved for use in humans. Treatment for cancer in the last 5 years

Ages Eligible for Study
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Minimum Age: 30 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Idiopathic Parkinson's Disease patients<br>Up to 30 Parkinson's Disease patients will be enrolled. | Procedure: Biofluid samplings<br>* Blood and Urine<br>|
| Healthy Controls<br>Up to 30 Healthy Controls will be enrolled. | Procedure: Biofluid samplings<br>* Blood and Urine<br>|
| LRRK2 G2019S - Manifesting<br>Up to 30 LRRK2 G2019S Manifesting carriers will be enrolled. | Procedure: Biofluid samplings<br>* Blood and Urine<br>|
| LRRK2 G2019S - Non-Manifesting<br>Up to 30 LRRK2 G2019s Non-Manifesting carriers will be enrolled. | Procedure: Biofluid samplings<br>* Blood and Urine<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Phosphorylated LRRK2 and LRRK2-phosphorylated Rabs | Assess the levels of phosphorylated LRRK2 and LRRK2-phosphorylated Rabs, as measures of LRRK2 kinase activity, in PBMCs and neutrophils from LRRK2 PD, idiopathic PD, non-manifesting LRRK2 mutation carriers and healthy controls. | 7 months | 
| mtDNA damage in buffy coat | Assess the levels of mtDNA damage in buffy coat from LRRK2 PD, idiopathic PD, non-manifesting LRRK2 mutation carriers and healthy controls. | 7 months | 
| Correlate LRRK2 kinase activity to mtDNA damage | Correlate LRRK2 kinase activity to mtDNA damage in blood from LRRK2 PD, idiopathic-PD, non-manifesting LRRK2 mutation carriers and healthy controls. | 7 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Assess the ability of the network to efficiently conduct a study | To assess the ability of the network to efficiently conduct a study involving biosample collection for PD research. Efficiency will be assessed using measures of the time taken to meet specific milestones within the study. | 7 months | 
| Assess the ability of the network to collect high quality biospecimens | To assess the ability of the network to collect high quality biospecimens adhering to agreed-upon, standardized protocols | 7 months | 
| To gauge the willingness of participants to participate in subsequent Fox BioNet studies | To gauge the willingness of participants to participate in subsequent Fox BioNet studies | 7 Months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Parkinson's Disease, Biomarker, LRRK2