SNPMiner Trials (Home Page)
Report for Mutation G2385R
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There are 3 clinical trials
Clinical Trials
1 From Mouse Models to Patients: Development of a Novel 18F-DTBZ PET Imaging as a Biomarker to Monitor Neurodegeneration of PARK6 and PARK8 Parkinsonism
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 Parkinson's Disease 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 ---
Primary Outcomes
Description: 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.
Measure: To calculate the decline rate of striatal 18F-FP-(+)-DTBZ binding and to evaluate whether the degenerative rate differs between idiopathic PD patients and genetic-proving PARK6/PARK8 patients Time: 2 yearsSecondary Outcomes
Description: To analyze the correlation between 18F-FP-(+)-DTBZ annual decline rate and the progression rate of clinical motor scores/non-motor scores/ neuropsychiatric tests in each group. Furthermore, to access the utility of 18F-DTBZ PET imaging as an in vivo biomarker to monitor neurodegeneration in PD patients.
Measure: 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 Time: 1 year2 The Chinese Parkinson's Disease With LRRK2 Variants Registry
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 Parkinson Disease MeSH:Parkinson Disease
However, some polymorphisms of LRRK2 such as G2385R and R1628P can also affect the risk of developing PD. --- G2385R ---
Primary Outcomes
Description: Establish the database of Parkinson's disease with LRRK2 variants in mainland China.
Measure: Database of Parkinson's disease with LRRK2 variants Time: 10 yearsDescription: Characterize the clinical feature in patients of Parkinson's disease with LRRK2 variants
Measure: Clinical feature Time: 10 years3 Assessment of LRRK2 Activity in G2385R Carriers and Markers Predicting Conversion to and Progression of Parkinson's Disease
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 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 ---
Primary Outcomes
Description: Differences of blood LRRK2 activity measured by the optimized laboratory protocols among LRRK2 G2385R carriers and non-carriers with or without PD
Measure: LRRK2 activity Time: baselineDescription: Immune-related differences between LRRK2 G2385R carriers and non-carriers with or without PD. Immunological measures include (a) distribution of peripheral blood lymphocyte populations: flow cytometry analysis for surface staining of CD19, CD22, CD79A, PAX5 on B cells, and CD11b, CD14, CD16 on monocytes; (b) cytokine profiles in serum: IL-6, IFN-γ, TGF-β, TNF-α; (c) flow cytometry analysis for proteins involved in several LRRK2-related immune signaling pathways: TLR-4, IFN-γ and TGF-β, NF-κB.
Measure: Immune function Time: baselineSecondary Outcomes
Description: Non-motor and motor symptoms are measured using the following methods: Brief Smell Identification Test (B-SIT) , Hamilton Depression Rating Scale (HAM-D) , RBD Questionnaire-Hong Kong (RBDQ-HK), Mini-Mental State Examination (MMSE), Non-Motor Symptoms Scale for Parkinson's Disease (NMSS), MDS-Unified Parkinson's Disease Rating Scale (MDS-UPDRS) and Purdue Pegboard
Measure: Clinical symptoms associated with blood LRRK2 activity Time: baseline