SNPMiner Trials by Shray Alag


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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 years

Secondary 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 year

2 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 years

Description: Characterize the clinical feature in patients of Parkinson's disease with LRRK2 variants

Measure: Clinical feature

Time: 10 years


HPO Nodes


Neurodegeneration
Genes 81
PRNP TREM2 CSF1R WDR45 ATXN3 PRPH GM2A UBTF UBQLN2 ATXN2 TBK1 PON1 FTL ADAR TREX1 MATR3 ATXN3 GM2A DAO RNASEH2C SQSTM1 UCHL1 MFSD8 TANGO2 NEFH ABCD1 PLA2G6 EPHA4 IFIH1 COQ2 RNASEH2A CCNF ANG DCTN1 PON2 ANXA11 ZBTB20 GLT8D1 FIG4 ATXN3 OPTN TARDBP CHMP2B VAPB IDS HNRNPA1 C19ORF12 PANK2 GALC CFAP410 PFN1 TXN2 SOD1 IDUA C9ORF72 NBN ERBB4 FA2H TTC19 PON3 GLE1 NARS2 NAXD NEK1 CHCHD10 PPARGC1A FOLR1 RNASEH2B GUSB PDE8B MAPT COASY UNC13A PLA2G6 LYST VCP PCNA TAF15 FUS AARS2 SAMHD1
Parkinsonism
Genes 160
ATXN2 DCTN1 PPP2R2B FBXO7 TWNK WDR45 PRKN GRN AFG3L2 TMEM106B DNAJC13 SNCA TBP TAF1 MAPT ADH1C SNCB PDE10A APOE VCP PLA2G6 MAPT SLC30A10 DCTN1 SORL1 C19ORF12 TAF1 FUS MAPT HTRA2 AP5Z1 COQ2 MECP2 PLA2G6 SNCA DNAJC5 AFG3L2 COQ2 PINK1 NR4A2 ATP6AP2 PRKRA ATP13A2 VPS13C CHMP2B GBA PANK2 PSEN1 GLUD2 PARK7 PTS LRRK2 PLAU POLG PSEN1 TRPM7 NOS3 CHCHD10 MPO HFE VCP PANK2 ATXN2 GBA TK2 DNAJC12 SQSTM1 MAPT XPR1 PDGFB PDE10A ATP6AP2 FTL KIF5A MAPT GIGYF2 MAPT RAB39B TREM2 SNCA SLC20A2 C9ORF72 TBP SYNJ1 TARDBP PPP2R2B C9ORF72 KIF5A TREM2 TBK1 WDR45 MAPT ABCA7 C9ORF72 VPS13A UBTF SLC18A2 ATXN8OS GCH1 ATXN2 TOMM40 GRN PDGFB PRKRA FTL PDGFRB CHCHD10 SLC6A3 SLC39A14 SNCA JPH3 LRRK2 GIGYF2 COQ2 ATP1A3 MAPT C9ORF72 ATP13A2 COASY PRNP CLN3 MYORG PSEN2 FBXO7 GCH1 ATXN3 SNCAIP FMR1 SLC18A2 C19ORF12 PRKAR1B MAPT POLG AP5Z1 PSEN1 TH MECP2 EIF4G1 POLG SLC39A14 EIF4G1 APP TBP APP VPS35 TH DNAJC6 VPS35 TMEM240 ATP13A2 ATP1A3 SLC6A3 A2M CP FMR1 PDGFRB ATP13A2 GBA SNCA VCP