SNPMiner Trials by Shray Alag


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Report for Clinical Trial NCT03322696

Developed by Shray Alag, 2020.
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: Liver Cirrhosis Thrombosis 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 164
TTC37 TMEM67 GDF2 ATP7B F5 MPV17 HJV IGF2R SLC40A1 POLG ARHGAP31 CCDC115 ATP8B1 BSCL2 HFE TREX1 TTC37 JAK2 BCS1L TFR2 AGPAT2 ACVRL1 TERC FOS POU2AF1 APOE TYMP SLC30A10 BSCL2 CTC1 NOP10 UROD CAV1 INPP5E NOTCH1 TP53 ENG NHP2 FECH DOCK6 LIPA KRT8 SKIV2L RPGRIP1L SMAD4 PPARG LIPA TFAM NGLY1 TERC RPGRIP1L AP1S1 MARS1 DCDC2 SKIV2L RTEL1 GPC1 PARN BSCL2 ALMS1 TERT KRT18 SERPINA1 GBA TNFSF15 HSD3B7 ATP7B ABCB11 SFTPC GALT GLRX5 USB1 PEX1 HFE ITCH TINF2 ALDOB IL21R AKR1D1 F5 GPR35 SLC25A13 ENG TMEM67 CYP7B1 MPI APC TERC TALDO1 CTNNB1 TERT SLC7A7 NR1H4 GBE1 HSD3B7 JAG1 CASP8 HFE BMP2 HAMP CC2D2A EOGT FARSB COG4 TERT SCARB2 ABCB4 CAVIN1 SMPD1 MUC5B RBPJ TALDO1 PIGA AXIN1 TCF4 NPM1 COG4 WRAP53 AP1B1 IL12A LBR JAK2 ASS1 TINF2 DKC1 PHKG2 NPHP3 TRMT5 DKC1 FAH SPIB PHKG2 AGPAT2 DGUOK HBB MST1 ATP6AP1 COG6 ABHD5 PHKA2 SLC40A1 PPARG PDGFRL ACVRL1 DLL4 SLC30A10 IL12RB1 AMACR KRT18 IRF5 SFTPA2 IFT43 MET PIK3CA TREX1 MMEL1 KRT8 PPARG RRM2B TERT NHP2 CC2D2A POLG TNPO3
Deep venous thrombosis
Genes 17
PROC HABP2 F5 SERPINC1 PMM2 F2 AKT1 SERPIND1 SERPINC1 PIEZO1 PROS1 MTHFR PROC THBD F13A1 PLAT F9
Hepatic fibrosis
Genes 140
CSPP1 TTC37 DYNC2H1 BBS9 TMEM67 MET IFT122 DZIP1L TMEM67 SLC40A1 WDPCP ARHGAP31 ABCB4 TTC37 GPD1 WDR35 NPHP3 POU2AF1 BBS10 SDCCAG8 C8ORF37 IQCB1 DLL4 PLIN1 BBS1 WDPCP SLC25A13 CEP290 NOP10 INPP5E NOTCH1 SCYL1 PTRH2 DOCK6 TMEM67 BBS7 CC2D2A SKIV2L RPGRIP1L DCDC2 TCTN2 LIPA TMEM67 IFT172 PMM2 NPHP3 RPGRIP1L CTNNB1 AP1S1 PKHD1 WDR35 GPC1 TTC8 NEK1 B9D1 PMM2 TNFSF15 RPGRIP1 NPHP1 BBIP1 INSR FADD INVS OFD1 CCDC28B PEX1 MKS1 PNPLA6 NEK8 CC2D2A LZTFL1 INPP5E RPGRIP1L ANKS6 GPR35 NPHP4 TMEM67 CEP290 MPI TMEM231 IFT80 MPI ARL6 AGL WDR60 CEP55 ASL ALG9 CC2D2A EOGT BBS2 MKKS IFT27 GLIS3 BBS5 INSR CEP290 TRIM32 ABCD3 TRAF3IP1 TMEM107 SDCCAG8 BBS1 DOLK MKS1 RBPJ TALDO1 TCF4 IL12A NPHP1 NHP2 WDR19 TMEM67 HJV HAMP TRAF3IP1 CYP7B1 NPHP3 SPIB PHKG2 IFT140 DGUOK MST1 B9D2 PHKA2 SLC40A1 WDR34 BBS4 PKHD1 TMEM216 SCYL1 DLL4 CEP164 IL12RB1 IRF5 MMEL1 BBS12 IFT172 CC2D2A TNPO3
Venous thrombosis
Genes 96
HLA-DPA1 FGA GDF2 MPL TLR4 PTPN22 MET SPINK1 FGG SERPINC1 AKT1 STAT4 CCR1 PROS1 TP53 SAA1 CBS TET2 GNAQ IDH1 FGB JAK2 ACVRL1 IDH2 F5 SERPINC1 CPA1 GNAQ F2 AKT1 SERPIND1 PDGFRA CTRC NOTCH1 JAK2 HBB PROS1 PIEZO1 ERAP1 AGGF1 CDH23 PROC HLA-DPB1 THBD KIF11 F13A1 KLRC4 TET2 IL10 PROS1 UBAC2 PIGM HLA-B IDH2 PROC HABP2 MPL MPL CD55 C4A SMAD4 IL12A-AS1 THPO CALR IL12A CALR IL23R JAK2 HBB CTNNB1 PLAT F9 PRSS1 MEFV TET2 PMM2 IDH1 PTEN CTLA4 PTH1R CASR SH2B3 USP8 MTHFR PROC PRTN3 MPL FAS EPOR CFTR PRKAR1A PDE4D PRSS2 ENG JAK2 PGM1