SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT00335244

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

A Phase III Single-Blind, Randomized, Placebo Controlled, Clinical Trial to Determine the Safety and Efficacy of Intravenous L-Citrulline Versus Placebo in Children Undergoing Cardiopulmonary Bypass

This clinical trial will determine the safety and effectiveness of intravenous L-citrulline in children undergoing cardiopulmonary bypass during heart surgery. Participants will be randomly assigned to either L-citrulline or a placebo (a substance that has no medicine in it). Citrulline is a protein building block in the body that can convert into another substance, nitric oxide (NO), which controls blood pressure in the lungs. Increased blood pressure in the lungs can be an important surgical problem; it may also lead to problems following surgery, such as severe high blood pressure in the lungs (pulmonary hypertension), increased time spent on a breathing machine, and a longer stay in the intensive care unit (ICU). The hypothesis of this study is that perioperative supplementation with intravenous citrulline will increase plasma citrulline, arginine and NO metabolites and prevent elevations in the postoperative PVT leading to a decrease in the duration of postoperative invasive mechanical ventilation.

NCT00335244 Heart Defects, Congenital Hypertension, Pulmonary
MeSH: Hypertension, Pulmonary Congenital Abnormalities Heart Defects, Congenital
HPO: Abnormal heart morphology Pulmonary arterial hypertension

2 Interventions

Name: L-citrulline

Description: 150mg bolus X 1 after initiation of cardiopulmonary bypass followed by continuous infusion of 9mg/kg/hr IV, starting 4 hours post bolus administration and ending at 48 hours continuous infusion or discharge from the PCCU

Type: Drug

1

Name: Placebo of intravenous L-citrulline

Description: Placebo of intravenous L-citrulline

Type: Drug

2


Primary Outcomes

Measure: Duration of postoperative mechanical ventilation in hours compared between treatment groups.

Time: Measured in hours from the end of surgery until extubation

Secondary Outcomes

Measure: Incidence of increased PVT (defined as a sustained mean pulmonary artery pressure greater than 20 mm Hg for at least 2 hours, measured during the first 48 hours

Time: Measured in hours from the end of surgery until extubation

Measure: Postoperative intravenous inotrope score

Time: Measured at 48 hours

Measure: Length and volume of chest tube drainage

Time: Measured in hours from the end of surgery until removal of chest tubes

Measure: Length of ICU stay

Time: Measured in hours from the end of surgery to discharge from ICU

Measure: Length of hospitalization

Time: Measured from the day of surgery until discharge from hospital

Measure: Survival

Time: Measured at 30 days post surgical repair

Purpose: Prevention

Allocation: Randomized

Parallel Assignment


There is one SNP

SNPs


1 T1405N

Finally, a genetic single nucleotide polymorphism (SNP) in the rate limiting urea cycle enzyme (carbamyl phosphate synthetase I [CPSl T1405N]) appeared to affect postoperative plasma arginine levels and PVT. --- T1405N ---



HPO Nodes


HPO:
Abnormal heart morphology
Genes 1050
EPHB4 MKKS TACO1 RPL26 RPL27 ERBB3 CTU2 GLRX5 ABCA1 SLC29A3 ERCC2 RPL35A DGCR6 SF3B4 EYA4 AMER1 ERCC3 BRIP1 LZTR1 ERCC4 ABL1 IRX5 ESS2 ZMPSTE24 ACADL ACADS MAP1B ACADVL CWC27 DNAJC19 CCDC174 USP9X MAT2A RBM10 SPEG SMC1A TRAIP RPS6KA3 APC2 ACTA1 ACTA2 TMEM216 ACTB ZFP57 MC2R NAA10 ACTC1 ACTG2 TCIRG1 EVC MMP21 RPS17 RPS19 IKZF1 RPS20 EXT1 KLHL41 EXT2 RPS26 ACTN2 ACVR2B RRAS RREB1 ARID1A SGO1 COLQ ADAR IL17F KLRC4 ADCY5 WARS2 MEFV MEIS2 RYR1 RYR2 TBC1D24 CDC45 MEOX1 FANCA FANCC FANCD2 CITED2 FANCE ADK ACSL4 FAH TTC8 FANCB DACT1 FANCF FANCG SAA1 ARID1B MGAT2 FBN1 FBN2 SALL1 MGP AARS2 ZMYND10 AEBP1 ARHGAP31 FKTN STRADA AGL SCN1B JAG1 RNASEH2C MID1 MIF SCN5A MIPEP ARL13B MIB1 COA5 AHCY GPC4 ALPK3 WDR35 KIAA1109 MLH1 SCO1 CC2D2A KMT2A FGF8 FGFR1 FGFR3 FGFR2 MMP1 MAD2L2 PRKAG2 PIBF1 FHL1 FHL2 DOCK6 POMK LTBP4 SLC30A10 SDHA FOXF1 SDHB ZNF687 FOXC1 SDHD FOXE3 FOXC2 MPL ALX3 TRAF7 TMEM126A FLI1 FLNA FLNB FLNC FRAS1 BIN1 FBLN5 FOXRED1 CCDC22 FMR1 ANK1 FN1 OFD1 NEBL SLC25A4 CISD2 RNASEH2A PTF1A SGCA PUF60 SGCB SGCD SGCG ACAD9 SGSH FOS IFT81 PEX3 CEP290 AGPAT2 RNF135 ARX DOLK SLC19A2 KCNAB2 ARFGEF2 SHH POMGNT1 APOB ARMC9 MSH2 CHD7 FASTKD2 POMT1 TMEM107 TXNRD2 FXN SIX3 FANCM SKI PIGV FAS TCAP CDK10 COA8 ABCC6 RBM20 ARCN1 PEX26 ARF1 RBCK1 STAMBP SLC4A1 EPG5 FAN1 MTFMT LIMS2 TPK1 NBAS PACS1 DNAI1 SETD2 LIPT1 VAC14 ARL3 PIGT MLH3 NDUFAF4 VIPAS39 NPHP3 PIEZO2 TNFSF11 ACAD8 ARSB ATP6 TRNC SLC12A3 COX1 COX2 UBE2T G6PC3 COX3 ARVCF KLF1 CYTB CTCF DYNC2LI1 CDK13 OTUD6B TP63 FLAD1 ANKRD1 ND1 ND2 SLC22A5 ND3 ND4 NAXD MRPS14 PPA2 ND5 ND6 DCHS1 PTCH2 ANKRD11 B9D1 SMARCA4 GATAD1 RSPO2 SMARCB1 AGK FLCN TRNE SMARCE1 TRNF SMN1 NDUFAF6 TRNH IFT122 FUCA1 TRNK ATIC TRNL1 HAMP RERE TRNN TRNQ TRNS1 TRNS2 RNASEH1 TRNT TRNV FUT8 TRNW SUFU ERMARD SNRPB MCTP2 PRDM16 STAG2 TRIM37 SLX4 MMUT GAA H19 AFF4 RAI1 MGME1 INVS SON DNAH11 SOS1 MYBPC3 SOS2 ATP5F1D SOX2 ATP5F1E RAB23 GABRD TRAF3IP2 SOX9 UBR1 ATP6V1A KDM5B INTU MYH6 ATP6V1E1 MYH7 MYH8 SPAG1 MYH11 ANKS6 EOGT MYL2 MYL3 GALNS MYLK ATRX CHST14 ERAP1 ZNF423 SPTA1 SPTB TMEM126B PKD1L1 GAS1 NAGA NAGLU HDAC8 GATA1 CPLX1 MAP3K20 GATA3 GATA4 MYOZ2 GATA6 FADD GBA BBS1 BBS2 GBE1 CDH23 SRP54 FGFRL1 TAB2 SRY NKX2-6 GCK POGZ NDUFA2 NDUFA4 PEX11B SRCAP NEB NDUFA9 GDF1 NDUFA10 COQ2 BCR BCS1L NDUFB8 NDUFS1 NDUFS2 NDUFS3 STAR NDUFV1 NDUFS4 STAT1 STAT3 STAT4 NDUFS8 NDUFV2 NOD2 XYLT1 XYLT2 STK4 IFIH1 DNAAF3 GJA1 BMP2 GJA5 NEK1 GJA8 BMPR1A ZNF469 BMPR2 NEU1 TXNL4A NF1 GLA GPC3 NDUFA12 BRCA1 GLB1 TMTC3 BRAF BRCA2 NFE2L2 GLI1 GLI2 NFIX GLI3 ABCC8 SURF1 BTK MYPN SYNE2 HES7 BUB1 BUB1B CFC1 VPS13A C1QBP LRRC56 MYMK SMG9 HYLS1 PACS2 KIAA0556 C4A TAF2 SEMA4A STRA6 MYO18B FOXH1 GTPBP3 MAP3K7 NODAL KCNQ1OT1 TALDO1 MYRF NONO KYNU GNS ABCG5 PIGO ABCG8 NOTCH1 TBX1 ALG1 NOTCH2 TAZ NOTCH3 GP1BB TBX2 TBX5 CACNA1C CACNA1D CACNA1S LIAS NPPA TBX3 SLC25A20 RPGRIP1L NRAS NEDD4L MLX TCOF1 SYNE1 TAF1A ROR2 GPX4 HGSNAT SLC19A3 NSD1 BAZ1B LMBR1 IL17RC TDGF1 SPECC1L AIP CAV1 SIK3 MED13L SLC7A7 ADNP CBL PRDM5 LARS2 NXN CBS TFAP2B OPA1 NR2F2 GSN ZFPM2 POLR3A MLYCD TFR2 CCND2 SIX6 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 B9D2 TGIF1 MSH6 COL18A1 USP8 GTF2E2 SH3PXD2B LDB3 OTX2 GTF2I SMC3 NKX2-1 IL12A-AS1 TK2 GUSB TKT GYG1 TLL1 GYS1 SCARB2 MRAP TGDS TLR4 PAH DNAI2 FIBP CKAP2L TMPO HAAO HSD17B10 PAX3 HADHA MRPL3 HADHB HADH TNFRSF1A TNNC1 HBA1 PBX1 BUB3 HBA2 POLG2 DNAAF1 TNNI3 KAT6B HBB TNNT2 CDC42 PCCA PCCB NNT CFAP53 HCCS TNXB HACD1 DISP1 TOP3A ATP6V0A2 COX14 PCNT TPI1 TPM1 TPM2 HEXB TPM3 CDKN1C PIGN HFE H19-ICR HGD SDHAF1 TMEM67 TREX1 ASXL1 ARL2BP CFAP300 PDE6D HLA-B PDGFRA MICOS13 PDHA1 HLA-DPA1 HLA-DPB1 ENPP1 CCDC114 HLA-DRB1 CFTR GDF6 PEX1 CLEC7A PEX6 PEX7 DNAJC21 DPM3 PEX10 PEX12 PEX13 PEX14 KCNE5 ANO5 TSC1 TSC2 HMGCL CHD4 LRRC6 WNT4 CHKB TRIP13 TTN LYST HNRNPA1 TTPA CHRM3 TTR TRIP4 HNRNPA2B1 CHRNA1 ELAC2 PGM1 CHRND HNRNPU CHRNG HIRA RNU4ATAC TWIST1 EFTUD2 SLC25A3 SLC2A10 HOXA13 CRELD1 PHYH LONP1 PIGA CLCN7 CLCNKB HOXD13 CLIC2 PIK3CA PIK3R2 CLN3 RAB3GAP2 RECQL4 HPS1 UFD1 A2ML1 PKD1 SNX10 PKD2 PEX16 HRAS GTF2H5 PKP2 LMOD1 ALG8 UMPS PLAGL1 CCR1 IL17RA DGCR8 PLD1 MTO1 FTO TMCO1 GMPPB PLN PLOD1 EIF2AK3 KDM6A NIPBL CCDC151 D2HGDH ALG12 HSPA9 DSE VCL VCP CHST3 COL1A1 PMM2 COL1A2 COL2A1 HJV COL3A1 POMT2 PMS1 SLC25A24 COL5A1 COL5A2 HSPG2 NDUFB11 TRAPPC11 COL7A1 PIGL PMS2 PRRX1 COL11A1 COL11A2 TBX4 VWF MYOT NDUFAF5 POLR1A COMT CCDC103 TAPT1 ADAMTS3 CLIP2 DLL4 FKRP WFS1 WHCR NSD2 NELFA INPP5E RRM2B POLG GNPTAB LZTFL1 NDUFAF3 BAG3 COX6B1 WT1 COX7B COX8A POR COX10 PORCN COX15 TWNK XK SAMHD1 TMEM43 GATA5 IDH2 PPARG XRCC2 CPT1A XRCC4 IDS CPT2 GTF2IRD1 IDUA NSMCE2 GDF3 SP110 CREBBP CFAP298 SLC40A1 SHANK3 SH2B1 CRKL NDUFA11 ZIC2 ZIC3 PPP1CB DNAH1 CRYAB PPP2CA IGBP1 IGF1R IGF2 KANSL1 SEC24C LACC1 CSNK2A1 NEK8 TTC37 SETBP1 RBPJ CEP41 MPLKIP PRKAR1A KBTBD13 NKX2-5 CTBP1 CAVIN1 CTLA4 PRKG1 MAPK1 MAP2K1 MAP2K2 CEP57 NEXN IL6 CRB2 SEMA3E ATPAF2 IL10 CEP104 COX20 LDLRAP1 IL12A IL12B TCTN3 MASP1 DDX59 AHI1 NDUFS7 PRTN3 PLVAP ZNF148 DCAF8 PSEN1 PSEN2 TMEM237 TMEM94 PET100 INS IFT172 PIEZO1 MRPL44 RNF113A KIAA0586 VPS33A PSMB8 PDX1 PTPN22 DAXX TTC25 UPF3B PSMD12 NHLRC2 DNAL1 GPR101 ITGA7 PTCH1 PTEN BCOR NEK9 ZEB2 MRPS22 PHGDH B3GAT3 MKS1 ITPA KIAA0753 FBXL4 NSDHL DDX11 TMEM260 DNAAF5 DES JUP TRMT10C COA6 PTPN11 PTPN14 CEP120 ALMS1 HIBCH CLPB VPS33B CANT1 SACS FIG4 WASHC5 KCNH1 CXCR4 KCNJ5 KCNJ8 DHCR7 KCNJ11 TMEM70 COQ9 PEX19 ABCD4 PEX2 PEX5 KCNQ1 ALDH18A1 DLD RBM8A DMD AMMECR1 SARDH RMND1 TMEM231 TBX20 CPLANE1 HYMAI DNAH5 DNAH9 MED12 DNASE1L3 TCTN1 IL23R KIF11 PCSK9 CDON DNMT3A CCDC40 RAD21 RAD51 TBX22 RAD51C RNASEH2B KRAS RAF1 RPGRIP1 DGCR2 DPH1 SCO2 AKT3 FAT4 PNPLA2 RAP1A PDSS2 RAP1B EVC2 B3GLCT RARB DSC2 RASA2 NUP107 GNE DSG1 HCN4 DSG2 NDUFAF2 DSP COG7 DNAAF4 DTNA PIGS UBE3B KAT6A ASCC1 DVL3 LAMA2 LAMA3 AGGF1 LAMA4 JPH2 WDR60 LAMB2 B3GALT6 LAMB3 ABCC9 LAMC2 SALL4 LAMP2 FANCL PAM16 DPF2 LBR ARMC4 RFC2 ECE1 GPC6 DLL1 CCNQ PQBP1 ECHS1 PPCS SHOC2 SELENON BOLA3 LDLR JMJD1C CCDC39 CSRP3 WDPCP PALB2 LETM1 EDNRA TSFM RFWD3 YARS2 KIF7 CEP55 ESCO2 RIT1 TTC7A ADAMTS10 DNAAF2 NDUFA13 SLC17A5 RMRP SNIP1 FGF23 MFAP5 MLXIPL TNNI3K LIMK1 KMT2D TRNT1 ABHD5 ALX1 NDUFAF1 LMNA MEGF8 SETD5 ZDHHC9 ATAD3A COQ4 CCBE1 ATP6AP2 SBDS LOX FANCI ARID2 ALG9 RLIM MED25 LRP2 EHMT1 LRP5 UBAC2 PIH1D3 YY1AP1 BSCL2 ASXL2 LTBP2 ELN LTBP3 EMD TANGO2 PRG4 EPCAM CSPP1 RPL5 TBL2 CD96 EP300 VPS13B EPB42 RPL10 RPL11 SMAD3 SMAD4 RPL15 TCTN2 SMAD6 MAF
Pulmonary arterial hypertension
Genes 104
MPL PIGN KRAS SLC25A24 CACNA1D IL12B HSPG2 FLNA KRT8 EOGT TBX4 MLX HLA-B KRT18 PDSS1 DLL4 SFTPB SFTPC FOS HLA-DRB1 ACTA2 AGPAT2 KIAA0319L GATA6 LAMA2 IKBKG COX7B GBA TCIRG1 LAMB2 IRF5 PAM16 SPECC1L CAV1 PPARG ACVRL1 IDUA GDF2 COLQ PPCS TERT BANF1 NFU1 STAT1 NOD2 JAK2 GJA1 LIFR LIPT1 VAC14 BMPR2 LIPA TNFSF11 FBN1 SARS2 THPO SFTPA2 PIGA MGP COX1 ALMS1 COX2 CLCN7 G6PC3 COX3 FIG4 ARHGAP31 NFIX SCARB2 ND1 ND4 RBPJ ND5 ND6 SNX10 KCNK3 ABCD4 TRNF CCN2 CCR6 CAVIN1 BSCL2 FGFR1 TRNH FGFR3 EIF2AK4 TRNL1 TRNQ TRNS1 TRNS2 TRNW HBB DOCK6 ENG SLC37A4 MED12 ATP5F1A NOTCH1 FOXF1 SMAD4 CHST3 COL1A1 SMAD9 COL1A2