SNPMiner Trials (Home Page)
Report for Mutation R1628P
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There are 2 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
Patients didn't have other mutations that may contribute to the parkinsonism, such as LRRK2 G2019S, LRRK2 R1628P, PARK2, PARK6, and SCA2. --- G2019S --- --- R1628P ---
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 --- --- R1628P ---
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 years