Given the emerging evidence on LRRK2-related biomarkers, this project will focus on identifying leucocyte and urine biomarkers that are altered by the LRRK2 G2385R variant, and investigating the effects of LRRK2 kinase inhibitor (MLi-2) on these biomarkers, using immunoblotting and mass spectrometry.

NCT04436848

Conditions

1. Parkinson Disease

Interventions

1. Other: This is a non-interventional study

MeSH:Parkinson Disease

Identifying Leucocyte and Urine Biomarkers in Parkinson's Patients With LRRK2 G2385R Gene Variant. --- G2385R ---

LRRK2 G2385R Leucocyte and Urine Biomarker Study Given the emerging evidence on LRRK2-related biomarkers, this project will focus on identifying leucocyte and urine biomarkers that are altered by the LRRK2 G2385R variant, and investigating the effects of LRRK2 kinase inhibitor (MLi-2) on these biomarkers, using immunoblotting and mass spectrometry. --- G2385R ---

LRRK2 G2385R Leucocyte and Urine Biomarker Study Given the emerging evidence on LRRK2-related biomarkers, this project will focus on identifying leucocyte and urine biomarkers that are altered by the LRRK2 G2385R variant, and investigating the effects of LRRK2 kinase inhibitor (MLi-2) on these biomarkers, using immunoblotting and mass spectrometry. --- G2385R --- --- G2385R ---

Identification of monocyte-based biomarkers for LRRK2 G2385R variant. --- G2385R ---

Identification of urine-based biomarkers for LRRK2 G2385R variant. --- G2385R ---

The goals of this study are 1. To compare the functional effects of the LRRK2 G2385R variant among carriers with and without Parkinson's disease (PD) and non-carriers with and without PD 2. To investigate the relationship between functional effects of the LRRK2 G2385R variant and PD associated phenotype 3. To investigate the biomarkers associated with PD conversion in the LRRK2 G2385R variant carriers 4. To compare the immune-related differences between PD patients/unaffected individuals with and without the LRRK2 G2385R mutation, and to investigate the effects of immune dysfunction on the clinical expression of PD

NCT04349865

Conditions

1. Parkinson Disease

MeSH:Parkinson Disease

Assessment of LRRK2 Activity in G2385R Carriers and Markers Predicting Conversion to and Progression of Parkinson's Disease. --- G2385R ---

LRRK2 Activity and Markers of Parkinson's Disease in G2385R Carriers The goals of this study are 1. --- G2385R ---

To compare the functional effects of the LRRK2 G2385R variant among carriers with and without Parkinson's disease (PD) and non-carriers with and without PD 2. To investigate the relationship between functional effects of the LRRK2 G2385R variant and PD associated phenotype 3. To investigate the biomarkers associated with PD conversion in the LRRK2 G2385R variant carriers 4. To compare the immune-related differences between PD patients/unaffected individuals with and without the LRRK2 G2385R mutation, and to investigate the effects of immune dysfunction on the clinical expression of PD LRRK2 activity. --- G2385R ---

To compare the functional effects of the LRRK2 G2385R variant among carriers with and without Parkinson's disease (PD) and non-carriers with and without PD 2. To investigate the relationship between functional effects of the LRRK2 G2385R variant and PD associated phenotype 3. To investigate the biomarkers associated with PD conversion in the LRRK2 G2385R variant carriers 4. To compare the immune-related differences between PD patients/unaffected individuals with and without the LRRK2 G2385R mutation, and to investigate the effects of immune dysfunction on the clinical expression of PD LRRK2 activity. --- G2385R --- --- G2385R ---

To compare the functional effects of the LRRK2 G2385R variant among carriers with and without Parkinson's disease (PD) and non-carriers with and without PD 2. To investigate the relationship between functional effects of the LRRK2 G2385R variant and PD associated phenotype 3. To investigate the biomarkers associated with PD conversion in the LRRK2 G2385R variant carriers 4. To compare the immune-related differences between PD patients/unaffected individuals with and without the LRRK2 G2385R mutation, and to investigate the effects of immune dysfunction on the clinical expression of PD LRRK2 activity. --- G2385R --- --- G2385R --- --- G2385R ---

To compare the functional effects of the LRRK2 G2385R variant among carriers with and without Parkinson's disease (PD) and non-carriers with and without PD 2. To investigate the relationship between functional effects of the LRRK2 G2385R variant and PD associated phenotype 3. To investigate the biomarkers associated with PD conversion in the LRRK2 G2385R variant carriers 4. To compare the immune-related differences between PD patients/unaffected individuals with and without the LRRK2 G2385R mutation, and to investigate the effects of immune dysfunction on the clinical expression of PD LRRK2 activity. --- G2385R --- --- G2385R --- --- G2385R --- --- G2385R ---

Differences of blood LRRK2 activity measured by the optimized laboratory protocols among LRRK2 G2385R carriers and non-carriers with or without PD. --- G2385R ---

Immune-related differences between LRRK2 G2385R carriers and non-carriers with or without PD. --- G2385R ---

While the LRRK2 G2019S mutation is the most common mutation present in Caucasians and certain ethic groups, the G2385R variant has been identified as a risk factor for sporadic PD in the Asian population (Chinese Han, Japanese and Korean). --- G2019S --- --- G2385R ---

A systematic biochemical characterization of the G2385R is necessary to determine if this cohort may be useful in LRRK2 kinase inhibitor trials. --- G2385R ---

This study will take advantage of the larger cohorts of LRRK2 G2385R variant carriers with or without PD established by the Chinese Parkinson Study Group in China. --- G2385R ---

The purpose of the Chinese PD-LRRK2 Registry(CPD-LRRK2R) is to develop a database of patients of Parkinson's disease with leucine-rich repeat kinase 2 (LRRK2) gene variants in mainland China.

NCT03523104

Conditions

1. Parkinson Disease

MeSH:Parkinson Disease

However, some polymorphisms of LRRK2 such as G2385R and R1628P can also affect the risk of developing PD. --- G2385R ---

The primary objective of this protocol is to access the utility of 18F-DTBZ PET imaging as an in vivo biomarker to monitor neurodegeneration of both PD mouse models and PD patients. Secondary, the investigators will analyze progression rate of genetic-proving PARK8 and PARK6 patients who have homogeneous phenotype and genotype by 18F-DTBZ PET imaging.

NCT01759888

Conditions

1. Parkinson's Disease

Interventions

1. Drug: 18F-DTBZ

MeSH:Parkinson Disease Parkinsonian Disorders Nerve Degeneration

HPO:Neurodegeneration Parkinsonism

The annual decline rate of striatal 18F-DTBZ SUVRs (specific uptake value ratios) in PD patients carrying LRRK2 G2385R mutation, PARK6 patients, and patients with idiopathic PD, respectively.. To analyze the correlation between decline rate of 18F-FP-(+)-DTBZ uptake and clinical severity, and access the feasibility of 18F-DTBZ PET imaging as an in vivo biomarker to monitor neurodegeneration in PD. --- G2385R ---

3. Twenty PD patients were proved carrying LRRK2 G2385R mutation by our genetic laboratory. --- G2385R ---

Parkinson's Disease Parkinson Disease Parkinsonian Disorders Nerve Degeneration Total of 60 patients, 20 LRRK2 G2385R, 20 PARK6, and 20 idiopathic PD, will be recruited. --- G2385R ---