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Fox BioNet Project: LRRK2-002

Completed
Conditions
Parkinson Disease
Interventions
Procedure: Biofluid samplings
Registration Number
NCT03545425
Lead Sponsor
Michael J. Fox Foundation for Parkinson's Research
Brief Summary

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

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

Recruitment & Eligibility

Status
COMPLETED
Sex
All
Target Recruitment
114
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

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Arm && Interventions
GroupInterventionDescription
Healthy ControlsBiofluid samplingsUp to 30 Healthy Controls will be enrolled.
LRRK2 G2019S - Non-ManifestingBiofluid samplingsUp to 30 LRRK2 G2019s Non-Manifesting carriers will be enrolled.
Idiopathic Parkinson's Disease patientsBiofluid samplingsUp to 30 Parkinson's Disease patients will be enrolled.
LRRK2 G2019S - ManifestingBiofluid samplingsUp to 30 LRRK2 G2019S Manifesting carriers will be enrolled.
Primary Outcome Measures
NameTimeMethod
Phosphorylated LRRK2 and LRRK2-phosphorylated Rabs7 months

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.

mtDNA damage in buffy coat7 months

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 damage7 months

Correlate LRRK2 kinase activity to mtDNA damage in blood from LRRK2 PD, idiopathic-PD, non-manifesting LRRK2 mutation carriers and healthy controls.

Secondary Outcome Measures
NameTimeMethod
Assess the ability of the network to efficiently conduct a study7 months

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.

Assess the ability of the network to collect high quality biospecimens7 months

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 studies7 Months

To gauge the willingness of participants to participate in subsequent Fox BioNet studies

Trial Locations

Locations (5)

Charles E. Schmidt College of Medicine, Florida Atlantic University

🇺🇸

Boca Raton, Florida, United States

Northwestern University

🇺🇸

Chicago, Illinois, United States

University of Pennsylvania

🇺🇸

Philadelphia, Pennsylvania, United States

Columbia University Medical Center

🇺🇸

New York, New York, United States

Oregon Health and Sciences University

🇺🇸

Portland, Oregon, United States

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