SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT03322696

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

STUDY OF THE ADAMTS-13 LEVEL AS PREDICTIVE BIOMARKER FOR DEVELOPMENT OF PORTAL VEIN THROMBOSIS IN LIVER CIRRHOSIS

Patients with cirrhosis of viral etiology (HCV/HBV); Patients with cirrhosis of any other etiology (alcohol, idiopatic, autoimmune). Planned Number of cirrhotic subjects 200 patients Inclusion Criteria Subjects (18 yr old) with liver cirrhosis of any etiology, Exclusion Criteria All patients should not have hepatocellular carcinoma or other malignant tumors, they should not be treated with anticoagulant / antiplatelet agents, not affected by PVT already diagnosed and not suffering from congenital coagulation disorders (haemophilia A / B, von disease Willebrand, another congenital deficiency of coagulation factors) or severe thrombocytopenia (<30,000 Plt / μL). Subject has participated in another clinical study within 30 days prior to study enrollment or is scheduled to participate in another clinical study on cirrhosis Primary Objective To describe the prospective modification of ADAMTS-13 level and other coagulation variables (e.g. FVIII, VWF:Ag/VWF:act) in cirrhotic patients during 18 months from the enrolment and to verify their predictive role as biomarker of development of portal vein thrombosis (PVT) Secondary Objectives To describe prospectively the modification of ADAMTS-13 level as a function of the etiology of cirrhosis Statistical analysis The total duration of the study will be of 12 months. The sample size of 200 subjects will be selected as a feasible number of patients to be recruited in a period of six months. The patients will be consecutively enrolled and followed for 18 months. As a result, in a follow up period of 18 months about 20-25 cases of PVT are expected. Continuous variables will be expressed as means ± standard deviations. In addition to descriptive statistics (location parameters), univariate analysis will be performed on each parameter and development of PVT during the follow up period. In previous observational studies both 1) a reduced PV flow [prospectively] and 2) a reduction of ADAMTS-13 are significantly associated with PVT. These associations will be investigated prospectively and analyzed simultaneously by a multivariate analysis and ROC curve to establish the sensitivity and specificity of these parameters as predictors of PVT development. Analyses will be performed using available data

NCT03322696 C23.550.355 C14.907.355.830.925 C15.378.140.855.925
MeSH: Thrombosis Liver Cirrhosis Venous Thrombosis
HPO: Cirrhosis Deep venous thrombosis Hepatic fibrosis Venous thrombosis


Primary Outcomes

Description: Primary Endpoint To describe in a prospective way the association of both basal ADAMTS-13 level and portal vein flow with development of PVT in cirrhotic patients during 18 months from the enrolment. Measurement of ADAMTS-13 activity. ADAMTS-13 activity was measured in citrated plasma samples by a fluorescence resonance energy transfer (FRET)-based assay,

Measure: Association of portal vein thrombosis with ADAMTS13 activity

Time: 18 months

Secondary Outcomes

Description: The secondary objectives of analyzing the levels of ADAMTS-13 and VWF as a function of the etiology of cirrhosis will be further assessed only after a certified diagnosis of the particular etiologic of cirrhosis. In the case of HCV-associated cirrhosis also the genotype of HCV will be analyzed.

Measure: Analysis of ADAMTS-13 and VWF levels as a function of the etiology of cirrhosis.

Time: 18 months

Time Perspective: Prospective

Case-Only


There are 2 SNPs

SNPs


1 G20210A

FV Leiden R506Q and prothrombin G20210A genotyping of these polymorphisms was performed by using commercial kits based on PCR-RT-based method (from EliTechGroup S.p.A., Torino, Italy) on an automatic instrument (Model 7300, Applied Biosystem, Foster City, CA, USA). --- R506Q --- --- G20210A ---


2 R506Q

FV Leiden R506Q and prothrombin G20210A genotyping of these polymorphisms was performed by using commercial kits based on PCR-RT-based method (from EliTechGroup S.p.A., Torino, Italy) on an automatic instrument (Model 7300, Applied Biosystem, Foster City, CA, USA). --- R506Q ---



HPO Nodes


HPO:
Cirrhosis
Genes 119
HJV HFE MPV17 IL12A TMEM67 IL12RB1 TREX1 TCF4 KRT8 DCDC2 GLRX5 EOGT ATP6AP1 RPGRIP1L ATP7B GALT SPIB KRT18 USB1 PDGFRL RTEL1 DLL4 SFTPC CTC1 GPR35 MARS INPP5E AMACR FOS RRM2B POLG AGPAT2 AKR1D1 APC GBA PEX1 FARSB GBE1 CASP8 POU2AF1 IRF5 ATP8B1 CAV1 LBR APOE CCDC115 PPARG ACVRL1 WRAP53 SLC7A7 TYMP GDF2 NHP2 SKIV2L TERC TERT BCS1L F5 TFAM SLC40A1 IFT43 AXIN1 ABCB4 TFR2 JAK2 MST1 FAH MET PHKG2 HSD3B7 SERPINA1 LIPA AP1S1 NPHP3 IGF2R ABHD5 MMEL1 SFTPA2 PIGA ALMS1 TINF2 COG6 ARHGAP31 PIK3CA TTC37 DGUOK SLC25A13 JAG1 SCARB2 IL21R FECH RBPJ ASS1 ABCB11 DKC1 CC2D2A CYP7B1 PARN NOP10 CAVIN1 BSCL2 HAMP CTNNB1 UROD TRMT5 HBB DOCK6 ALDOB ENG TALDO1 SLC30A10 TNFSF15 TNPO3 COG4 NR1H4 NOTCH1 TP53 SMAD4 MPI
Deep venous thrombosis
Genes 12
THBD F2 PIEZO1 PROC F5 PROS1 SERPIND1 PMM2 SERPINC1 F9 AKT1 PLAT
Hepatic fibrosis
Genes 103
HJV MKKS GPD1 NPHP1 IL12A RPGRIP1 TMEM67 IL12RB1 IFT27 TCF4 IFT140 DCDC2 ANKS6 EOGT RPGRIP1L OFD1 SPIB TRAF3IP1 WDR34 DLL4 DYNC2H1 GPR35 INPP5E IFT172 SDCCAG8 DZIP1L LZTFL1 CEP290 TMEM216 INSR DOLK SCYL1 GLIS3 BBIP1 FADD PEX1 BBS1 BBS2 WDR60 BBS4 POU2AF1 IRF5 BBS5 TMEM107 NHP2 NPHP4 BBS9 SLC40A1 WDPCP CEP164 MKS1 BBS10 ABCB4 CEP55 WDR19 ARL6 MST1 TTC8 MET B9D2 NEK1 LIPA AP1S1 NPHP3 MMEL1 PNPLA6 ARHGAP31 TRIM32 BBS7 AGL NEK8 ASL TTC37 DGUOK ALG9 IQCB1 RBPJ ABCD3 PKHD1 WDR35 PTRH2 B9D1 CC2D2A CYP7B1 NOP10 IFT122 IFT80 HAMP CTNNB1 C8ORF37 TMEM231 PLIN1 DOCK6 TALDO1 BBS12 CSPP1 TNFSF15 TNPO3 NOTCH1 INVS TCTN2 PMM2 MPI
Venous thrombosis
Genes 74
MPL IL10 JAK2 TET2 IL12A EPOR MET PRSS1 USP8 PRSS2 SAA1 THBD PDE4D PRTN3 THPO HLA-B SPINK1 SH2B3 PDGFRA ERAP1 HLA-DPA1 CALR IL12A-AS1 HLA-DPB1 PIEZO1 CFTR TLR4 CTRC FGA CD55 FGB PRKAR1A AGGF1 CDH23 CPA1 SERPINC1 CASR CCR1 UBAC2 AKT1 PTPN22 PLAT C4A CTLA4 GNAQ IDH1 FGG IDH2 CTNNB1 ACVRL1 PTEN GDF2 FAS F2 HBB ENG F5 CBS SERPIND1 KLRC4 F9 PTH1R MEFV IL23R NOTCH1 PGM1 TP53 STAT4 KIF11 PROC SMAD4 PROS1 PMM2 PIGM