SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT01759888

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

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
MeSH: Parkinson Disease Parkinsonian Disorders Nerve Degeneration
HPO: Neurodegeneration Parkinsonism

1 Interventions

Name: 18F-DTBZ

Description: Subjects will receive a single i.v. administration of approximately 10 mCi 18F-FP-(+)-DTBZ (10 nmole FP-(+)-DTBZ) immediately prior to each scan. The proposed dose for this study is based on our phase I study. At the proposed human dose of 10 mCi, the whole body effective dose (ED) will be approximately 680 mrem. The estimated human ED is expected to be comparable to or below the range of other approved brain imaging agents, such as 18F-FDG.

Type: Drug

18F-DTBZ for Parkinson's Disease


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

Purpose: Diagnostic

Single Group Assignment


There are 3 SNPs

SNPs


1 G2019S

Patients didn't have other mutations that may contribute to the parkinsonism, such as LRRK2 G2019S, LRRK2 R1628P, PARK2, PARK6, and SCA2. --- G2019S ---


2 G2385R

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 ---


3 R1628P

Patients didn't have other mutations that may contribute to the parkinsonism, such as LRRK2 G2019S, LRRK2 R1628P, PARK2, PARK6, and SCA2. --- G2019S --- --- R1628P ---



HPO Nodes


HPO:
Neurodegeneration
Genes 72
VAPB CCNF RNASEH2B IFIH1 NEFH PPARGC1A TARDBP TREX1 NEK1 WDR45 ERBB4 CHCHD10 OPTN GALC PANK2 ZBTB20 UBQLN2 ANG AARS2 RNASEH2A ATXN2 FIG4 FOLR1 GLE1 PDE8B SQSTM1 GUSB UBTF FA2H UCHL1 C19ORF12 MATR3 TBK1 ANXA11 RNASEH2C NAXD ATXN3 TREM2 PON1 PON2 PON3 GM2A DAO NBN PLA2G6 FTL SAMHD1 MFSD8 TAF15 ABCD1 FUS COASY TANGO2 IDS C9ORF72 PFN1 IDUA TXN2 ADAR DCTN1 LYST HNRNPA1 UNC13A NARS2 CFAP410 TTC19 PCNA SOD1 VCP CHMP2B EPHA4 PRPH
Parkinsonism
Genes 85
SLC6A3 TMEM106B TARDBP TH WDR45 PPP2R2B CHCHD10 DNAJC13 PANK2 SNCAIP FMR1 PSEN1 PSEN2 SYNJ1 PDGFB PDGFRB ATXN2 MAPT SLC18A2 TK2 PTS SQSTM1 ATP6AP2 SLC20A2 UBTF VPS13C CLN3 AP5Z1 PARK7 POLG C19ORF12 TBK1 VPS35 AFG3L2 EIF4G1 LRRK2 VPS13A ATXN3 FBXO7 NR4A2 TREM2 GBA PRKAR1B DNAJC12 GIGYF2 DNAJC5 CP TWNK PLA2G6 PRKN FTL GRN GCH1 TOMM40 KIF5A TAF1 FUS COASY RAB39B APOE SNCB SLC39A14 ATP1A3 PDE10A SNCA APP C9ORF72 COQ2 DNAJC6 DCTN1 ATP13A2 ABCA7 MECP2 SLC30A10 PRNP MYORG VCP TMEM240 CHMP2B PINK1 JPH3 TBP XPR1 SORL1 PRKRA