SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report

Report for Clinical Trial NCT02425397

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Cancer and Deafness Associated With the Use of Platinum Derivatives in Children

A limited number of relatively contradictory studies have suggested that the development of serious ototoxicity in children treated with cisplatin or, more rarely, carboplatin could be partly related to genetic risk factors affecting detoxification enzymes and membrane transporters of platinum derivatives. The objective of this study is therefore to identify genetic variants associated with the development of platinum ototoxicity in patients treated with cisplatin or carboplatin (minimum follow-up of 3 years) for one of the following diseases: neuroblastoma, hepatoblastoma, retinoblastoma, malignant germ cell tumour, osteosarcoma, high-risk or recurrent Wilms' tumour, non-parameningealrhabdomyosarcoma. A total of 180 patients, corresponding to 60 cases with grade 3 or 4 ototoxicity and 120 controls with no signs of ototoxicity (separate complete audiograms for each ear) will be included. A saliva sample will be used to obtain DNA for pharmacogenetic studies. The value of this study will be to define a population at high risk of developing ototoxicity in order to adapt treatment, or even develop preventive treatment of ototoxicity based on antioxidant medications

NCT02425397 Cancer in Children. Hearing Loss
MeSH: Hearing Loss Deafness
HPO: Hearing impairment

2 Interventions

Name: Genetic study

Description: study of mutations of metabolic enzymes and membrane transport genes, which will be performed by sequencing.

Type: Genetic

patients with grade 3 or 4 Brock ototoxicity

Name: Genetic study MT-RN1

Description: study of mutations of the mitochondrial gene MT-RN1, which will be performed by sequencing.

Type: Genetic

patients controls with no signs of ototoxicity

Primary Outcomes

Measure: genetic factors (drug metabolism enzymes, membrane transporters) predisposing to cisplatin and carboplatin ototoxicity in children

Time: Day 0

Secondary Outcomes

Measure: genetic factors predisposing to aminoglycoside ototoxicity;

Time: Day 0

Measure: To provide a rationale for prevention of ototoxicity by the use of antioxidant medications.

Time: Day 0
Time Perspective: Retrospective

Case Control

There are 2 SNPs

SNPs

1 A313G

An A/G polymorphism situated in the substrate binding domain of the GSTP1 isoenzyme in position +313 of exon 5 (A313G) induces substitution of a isoleucine by a valine (Ile105Val). --- A313G ---

2 I105V

An A/G polymorphism situated in the substrate binding domain of the GSTP1 isoenzyme in position +313 of exon 5 (A313G) induces substitution of a isoleucine by a valine (Ile105Val). --- A313G --- --- Ile105Val ---

Finally, the role of GSTP1 Ile105Val polymorphism has not been evaluated in children (Barahmani et al., 2009). --- Ile105Val ---


HPO Nodes

HPO:
Hearing impairment
Genes 1126
CLPP MKKS TACO1 GDF5 TSR2 EPRS EPS8 AARS ERCC1 SLC29A3 ERCC2 MAK SF3B4 EYA4 AMER1 ERCC3 BRIP1 ABCA4 LZTR1 ERCC4 ERCC5 IRX5 ERCC6 ERF ZMPSTE24 MAN2B1 MANBA STUB1 DNAJC19 USP9X ACO2 CDHR1 SMC1A ACOX1 MAX RPS6KA3 ESRRB APC2 TMEM216 ACTB ZFP57 CD109 NAA10 ACTC1 ACTG1 TCIRG1 L2HGDH MECOM DHDDS MCM2 GRXCR1 PDZD7 EXT1 RPS23 RPS26 ACTN2 ACVR1 EYA1 ADGRV1 RPS28 RRAS ACY1 MDH2 RREB1 ARID1A TIMMDC1 SLC10A7 GRHL2 ADCY1 MECP2 TBC1D24 WAC CDC45 MEOX1 FANCA FANCC FANCD2 FANCE SEMA3A ADK ARL6 ACSL4 TTC8 MET BPTF FANCB DACT1 FANCF TUBB3 FANCG TUBB4A GRXCR2 ARID1B MGAT2 SAG FBN1 SALL1 NDRG1 CLIC5 KITLG MBTPS2 MGP CEP78 SC5D FKTN FAM161A YAP1 SCN1A FDXR HACE1 SCN5A MITF GPC4 DCAF17 AHR AHSG PRCD SCO1 FGF3 ANTXR1 KMT2A AK2 ELMOD3 FGF8 PLA2G6 FGF9 AKT1 FGF10 NOP10 FGFR1 FGFR3 ABCD1 FGFR2 MAD2L2 SLITRK6 MERTK FH FHL2 POMK GPRASP2 ALOX12B FOXG1 SEC23B SDHA SDHB SDHC FOXC1 SDHD FOXI1 FOXE3 ALX3 TRAF7 MPZ TMEM126A FLII FLNA FLNB SEMA3C DCDC2 FRAS1 CABP2 FOXRED1 CIB2 VPS37A EDC3 DEAF1 FMR1 NOP56 OFD1 NEBL SLC25A4 CISD2 CTC1 SGCD SGSH PEX3 CEP290 CNTNAP1 RNF135 DOLK SPTLC1 SLC19A2 LARS KCNAB2 BBIP1 APC KIAA1549 PHF6 NTNG1 POMGNT1 CHSY1 OPA3 CHD7 FASTKD2 COLEC10 TXNRD2 FXN SIX1 MORC2 FANCM SKI PRPF8 PIGV FAS NHP2 CCDC141 TMEM127 GBA2 CDC14A SLC7A14 TCAP COA8 RBM20 UFM1 ARSG PEX26 STAMBP EPG5 CASK MTFMT TRMU DNAI1 ARHGDIA SETD2 LIPT1 VAC14 ARL3 IARS2 NDUFAF4 PIEZO2 TNFSF11 LOXHD1 ARSA ARSB ATP6 ATP8 ARSE TRNC DKK1 COX1 COX2 UBE2T CATSPER2 G6PC3 COX3 ARVCF WDR11 CYTB FEZF1 P2RX2 MTHFD1 TRIM32 FARS2 ELMO2 SLC18A3 ASCL1 SLC25A1 OTUD6B TP63 FRG1 TBK1 ANKRD1 ND1 ND2 ND3 XPNPEP3 EBP ND4 ASPA RNASET2 NAXD FSHR ND5 ND6 SNAI2 DCHS1 PTRH2 ANKRD11 RNR1 SMARCA4 SLC17A8 GATAD1 SMARCB1 FLCN SMARCC2 SIX5 CDK5RAP2 TRNE SMARCE1 TRNF NDUFAF6 NR5A1 TRNH FUCA1 TRNI TRNK TRNL1 SNAP25 RERE EIF3F FUS TRNN TRNP TRNQ ATP1A2 ATP1A3 TRNS1 TRNS2 C9ORF72 RNASEH1 TRNV TRNW KDSR SUFU SNRPB FZD2 SPATA5 MCTP2 PRDM16 BBS12 YME1L1 SNRNP200 STAG2 SLX4 GAA GAB1 AFF4 RAI1 SON SP7 SOS1 MYBPC3 SOS2 SOX2 SOX3 RAB23 GABRD SPATA7 MYCN SOX9 BDP1 MYD88 SOX10 CERKL UBR1 SOX11 ATP6V1B1 MYH3 ATP6V1B2 VPS11 INTU MYH6 MYH7 MYH9 GALC GALE ATP6AP1 GALNS ATRX CHST14 RTEL1 MYO6 MYO7A MYO9A GJB4 KIZ GJB6 SDCCAG8 KIF1B IQSEC2 STAC3 CD164 NAGA NAGLU HDAC8 GAS8 GATA1 CPLX1 MAP3K20 GATA2 GATA3 GBA BBS1 BBS2 CDH23 BBS4 MPDZ FGFRL1 CCDC50 SRP72 SRY GCH1 GCK NDP POGZ NDUFA2 TNFRSF11A NDUFA4 PLXND1 COL25A1 PEX11B SRCAP NDUFA9 NDUFA10 SUCLG1 SUCLA2 COQ2 BCR BCS1L BBS9 NDUFB8 GDNF GFER NDUFS1 NDUFS2 NDUFS3 NDUFV1 HESX1 NDUFS4 SLC39A8 FGF17 STAT3 NDUFS8 NDUFV2 SLC52A3 XYLT2 DNAAF3 CDKL5 GJA1 BMP2 PROM1 NEFL BMP4 NEK1 NEK2 MYO3A GJB1 GJB2 ZNF469 GJB3 NEU1 KISS1R TXNL4A PNPLA6 STXBP1 GLA GPC3 NDUFA12 BRCA1 GLB1 BRAF BRCA2 NF2 ST3GAL5 KLHL7 REEP6 OTOGL SQSTM1 BTD SGPL1 NFIX GLI3 ABCC8 SURF1 PGAP2 SUMF1 BTK MYPN BUB1 VAMP1 BUB1B SCAPER C1QBP AP1S2 TRPV3 TAC3 GNAI3 TACR3 TAF1 GNAS SEMA4A ROBO3 PHOX2B MAP3K7 GNRH1 KYNU GNRHR GNS BTRC PIGO TBX1 NOTCH2 TAZ NOTCH3 CA4 GP1BA GP1BB TBX15 NPHP1 CACNA1A OTOA MARS2 CACNA1D IFT27 NIPAL4 HNF1B DMXL2 ADAMTSL1 PLOD3 TMC1 TCF12 NRAS NEDD4L HTRA2 NRL TCOF1 NRTN BEAN1 SMCHD1 PCLO TAF1A ROR2 SLC26A5 HGSNAT SLC19A3 TSPEAR NSD1 TRIOBP BAZ1B ARHGEF18 TWIST2 LMNB2 SYT2 SPECC1L BBS5 RUNX2 TECTA SLC44A4 PRDM5 LARS2 TERC TERT NXN TFAP2A ANKH EXOSC2 TFAP2B CREB3L1 OPA1 TNFRSF11B CRB1 SIX6 TGFB1 GRIP1 ORC1 ORC4 TARDBP TGM1 HARS2 GTF2E2 LDB3 KLLN OTX2 GTF2I THRB GZF1 GUCA1B SMC3 PRPF4 PRPF3 LRTOMT AIFM1 KCNQ4 TK2 GUSB PPP1R15B PJVK CEP250 GUCY2D FIBP TMPO HAAO CD151 PARN SERAC1 PAX1 HSD17B10 PAX2 PAX3 SPIDR HARS SLC39A14 CDC6 TNNC1 PBX1 BUB3 POLG2 TNNI3 KAT6B HBB TNNT2 CDC42 CDH1 AGRN HCCS SLC33A1 CDH11 TOP3A BMP15 COX14 OTOG PCNT RD3 TPM1 TMEM67 HGF PCYT1A CLDN14 LRAT ASXL1 ARL2BP PDE1C PDE4D NOG CFAP300 PDE6A PDE6D PDE6G MICOS13 PDE6B PDGFRB PDHA1 LEMD3 HLA-DPA1 ORC6 HLA-DPB1 PDK3 ENPP1 SLC26A4 GDF6 TRPS1 GLYCTK PEPD SLC5A7 PEX1 PEX6 PEX7 DNAJC21 PEX10 PEX12 PEX13 PEX14 EXOSC8 S1PR2 RNF13 KCNE5 CHAT CHD4 ATP8B1 AGBL5 CHN1 HNF4A TRIP13 TTN TUB TTR ELAC2 NLRC4 PGM3 TULP1 CHRNG HIRA TWIST1 SMPX SNAP29 HOXA1 EFTUD2 HOXA2 PHEX TYR HOXA11 ERCC8 HOXB1 PNPT1 COLEC11 PHYH LONP1 EPS15L1 SERPINB6 AP1S1 PNPLA1 PLAA PIGA CLCN7 CLCNKA NALCN CLCNKB OTOF COG1 PIK3C2A TMIE PIK3CA PIK3R1 HS6ST1 RAB3GAP2 RECQL4 UFD1 A2ML1 TMPRSS3 PITX2 PITX3 SNX10 PEX16 ASPM FSCN2 AIPL1 PSMC3IP GTF2H5 GPSM2 CYP7B1 PLAGL1 PLCB4 FLRT3 FTO HSD17B4 PYCR2 ITM2B GMPPB PLN GMPPA USH2A CLRN1 CNGB1 PLP1 CNGA1 KDM6A NIPBL ALG12 HOMER2 PUS7 VCL VCP CHST3 COL1A1 COL1A2 COL2A1 PMP22 HSPD1 PROK2 VHL COL4A3 WHRN SLC25A24 COL4A4 COL4A5 COL4A6 NDUFB11 TRAPPC11 COL7A1 PIGL BEST1 COL9A1 COL9A2 COL9A3 COL10A1 PRRX1 COL11A1 COL11A2 TBX4 COL13A1 NDUFAF5 COMT NMNAT1 ADAMTS3 CLIP2 PMPCB DIABLO WFS1 TNC WHCR NSD2 NELFA IARS POLD1 WNT5A RRM2B COL27A1 POLG WNT10B LZTFL1 NDUFAF3 BAG3 COX6B1 POLR1C COX7B COX8A POR COX10 PORCN COX15 TWNK POU3F4 POU4F3 XPA XPC DUX4 SIN3A IDH3B XRCC2 XRCC4 IDS GABBR2 GTF2IRD1 IDUA CTSA GDF3 CREBBP SYNE4 SHANK3 CRKL GIPC3 ZIC1 PPP1CB DNAH1 CRX CRYAB UGT1A1 IFRD1 CRYM IGBP1 IGF1 NSMF SEC24C NUS1 SETBP1 CERS3 IQCB1 ATP6V0A4 CEACAM16 LHFPL5 MPLKIP PRKAR1A CTBP1 PNPLA8 CTLA4 PRKDC MAPK1 CTNNB1 CTNND1 MAP2K1 IL17RD CEP57 NEXN ABHD12 DNAJC3 SEMA3E ZNF513 PRPS1 COX20 PRPF31 TCTN3 MIR96 IFT140 NLRP12 MASP1 CHCHD10 RIPOR2 AHI1 NDUFS7 ZBTB20 PRTN3 PSAP IMPDH1 HDAC4 PSEN1 PSEN2 ABCA12 PET100 INS IFT172 TPRN PIEZO1 DHX38 RNF113A PTDSS1 DAB1 PDX1 PTPN22 PRPF6 PSMD12 ITGA2 ITGA2B DCC PTEN BCOR NSUN2 ITGB3 DDB2 ITGB6 PTH1R MRPS22 DDX3X TTC19 MKS1 KIAA0753 NSDHL DDX11 BSND DES FREM2 TIMM8A FAM20C IMPAD1 ANOS1 PTPN11 GSDME KARS ADPRHL2 COCH OSBPL2 ALMS1 MOGS PROKR2 KCNC3 TINF2 SDHAF2 COQ8A TELO2 FIG4 KCNE1 KCNH1 USH1G DGUOK DHCR7 KCNJ10 KCNJ11 KCNJ13 ARNT2 DHODH PTPRQ PEX19 DIAPH1 PCDH15 PEX2 PEX5 MFN2 DKC1 KCNQ1 ALDH18A1 MAFB RBM8A DLX5 CDT1 DLX6 KIF5A DIAPH3 STRC DMD RFT1 SLC52A2 AMMECR1 SARDH RMND1 DMP1 CPLANE1 HYMAI KISS1 KIT MED12 DNASE1L3 RAC1 FKBP14 DNMT1 IMPG2 RAD21 RAD51 TBX22 RAD51C ESPN KRAS RAF1 RPGRIP1 LCA5 SCO2 SH3TC2 FAT4 PNPLA2 NR2E3 RAP1A SOST RAP1B B3GLCT RASA2 NUP107 USB1 DSG2 NDUFAF2 DSPP SEM1 SLC26A2 COG7 PIGS DUSP6 TPRKB COQ6 RBP3 DVL1 DVL3 GLIS3 LAMA4 RDH5 LAMB1 RDH12 PRPH2 ABCB6 RDX DNM1L ABCC9 ALG11 GJC2 PCARE SALL4 FANCL LHX3 DPF2 RET REV3L PRRT2 RFC2 WRAP53 ECE1 TYMP USH1C PQBP1 ECHS1 PPCS SHOC2 COL4A3BP TBL1XR1 GSC RGR GMNN JMJD1C TMEM38B CSRP3 WDPCP PALB2 EDN1 LETM1 MSTO1 EDN3 EDNRA NLRP3 EDNRB RFWD3 RHO KIF7 BBS10 RIT1 MSRB3 RLBP1 NDUFA13 LHX1 POLR1D MLXIPL LIG4 SEMA3D SNX14 LIMK1 EYS KMT2D BCAP31 AAAS TRNT1 EFNB1 ABHD5 ALX1 LMNA LMNB1 MEGF8 IFT88 CDCA7 TRAPPC12 MYH14 SETD5 LMX1B MRPS2 BBS7 LOR CCBE1 FANCI ARID2 ZNF408 SBF2 SPRY4 LRP2 EHMT1 LRP4 LRP5 TRPV4 ROM1 ALOXE3 ILDR1 TSHZ1 RP9 RP1 ELN RP2 RPGR MARVELD2 C8ORF37 TANGO2 MPZL2 MYO15A TOPORS RPE65 CSPP1 TBL2 EP300 VPS13B COQ7 SLC4A11 RPL10 RPL11 SMAD4 MAF