SNPMiner Trials by Shray Alag


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Report for Mutation V29C

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 A Randomized Controlled Trial on the Effectiveness of Inhaled Nitrous Oxide for Pain Relief During ROP Screening Exam in the Pre-term Infant

The primary objective of the proposed study is to show that inhaled equimolar mixture of oxygen and nitrous oxide (EMONO) will reduce pain associated with retinal exam in the preterm infant, as compared to the current standard treatment (oral sucrose and topical anaesthesia). The investigators also aim to show that EMONO can be used safely in preterm neonates undergoing retinal exam, and will not result in any increase in apnea, bradycardia, or desaturation in the 24 hours following the exam. Finally, the investigators aim to show that EMONO will keep the infant calm, and make retinal examination easier and less traumatic.

NCT00623220 Retinopathy of Prematurity Other: N2O Other: oxygen
MeSH: Retinal Diseases Retinopathy of Prematurity Premature Birth
HPO: Abnormal retinal morphology Premature birth Retinopathy

Heart and respiratory rate will be monitored using one of our NICU integrated monitors: Draeger Infinity Gamma XL (Draeger Medical Canada Inc, Richmond Hill, ON), or HP Agilent V29C/HP 895 (Hewlett Packard Company, Palo Alto, CA). --- V29C ---

Primary Outcomes

Measure: The primary objective is to show decrease of pain response in the treatment group as measured by the PIPP (Premature Infant Pain Profile) score

Time: PIPP score before, during and after eye exam

Secondary Outcomes

Measure: Heart and respiratory rate will be monitored using one of our NICU integrated monitors. Continuous pulse oximetry will be performed with a Masimo Radical pulse oximeter.

Time: during 48 hours


HPO Nodes


Premature birth
Genes 141
CYP11A1 COL5A2 WDR73 AIMP1 NUP107 TDGF1 IGHMBP2 FLVCR2 TP53RK ARHGAP31 DHPS PEX14 PTH1R PEX2 PEX10 MED12 GAS1 FLNB PEX1 TMEM70 MYH7 TGIF1 CDON PEX13 DLL1 RNU4ATAC NEB PNPO GBA NOTCH1 PEX12 CRKL DHCR7 KMT2A LAGE3 ZIC2 DOCK6 ATP8B1 HYLS1 SIX3 TPRKB CLCNKB ZMPSTE24 RNU4ATAC BRAF NODAL PEX19 FZD4 SMC3 FGF8 NLRP3 ZMPSTE24 CRB2 LRP5 FBN1 DISP1 MAP2K2 PEX3 PEX11B KRAS RPS19 TRIP4 SETD5 KLHL41 NDUFB11 WDR4 ACTA1 ADAMTS2 NIPBL ABCA12 SHH SMC1A HOXD13 COL1A1 KLHL40 KCNJ1 RPL10 FGFR1 BRAF COL1A2 KIF7 BSND RAD21 EOGT PEX16 MAPK1 OSGEP CLCNKA NDUFB3 LMNA GLI2 SLC12A1 PTCH1 CYP11A1 TSHR LMOD3 PEX26 RBPJ MAP2K1 STRADA ESCO2 PEX5 SF3B4 PEX6 SLC27A4 COL5A1 MUSK COL1A1 LMOD3 PLEC MAGED2 TPM3 NEB SLC17A5 NUP133 HDAC8 HRAS LMNA COL11A1 ALB NLRC4 BCR CLCN7 ABCB4 KLHL41 SARS2 ITGB4 FLI1 PNPO PTH1R DLL4 NDP ASCC1 FOXH1 COL5A1 SLC26A3 ACTA1 COL3A1 SUFU COL3A1 FIG4
Retinopathy
Genes 123
PHYH KCNJ11 HNF1A STAT3 MGMT CCR1 ALDH3A2 HFE CTNS ABCC8 INS NEU1 ERCC4 MCOLN1 PDX1 ABCC8 COL2A1 CDKN2B INS FGFR1 NDUFAF3 ERAP1 HADHA GNPTAB MYO5A HBB TMEM231 AP5Z1 MKS1 TNFRSF11B PLK4 BAP1 NEUROD1 MMACHC TRNE TMEM107 TXN2 NOD2 KRAS TXN2 GCK NELFA ENPP1 PLOD1 PAX4 NSD2 CDK4 LETM1 APOE PDX1 PANK2 NDUFB8 PEX7 ERCC3 TMEM107 TERF2IP CTLA4 NDUFAF1 CEP41 ASXL1 POT1 PTCH1 FAS KLF11 TERT TRNK TRNL1 SURF1 CTNS HLA-DPA1 BLK AGXT IL12B TUBB TLR4 PTPN22 CEL ERCC5 IDUA STAT4 DPM1 PROS1 C1QTNF5 HLA-B TINF2 KLHL7 COL11A1 SCO2 GCK ACD HNF4A NDUFS2 TULP1 MFSD8 HLA-DPB1 KIF11 KCNJ11 KLRC4 IL10 UBAC2 HLA-B MITF APPL1 C4A CSPP1 IL12A-AS1 IL12A TRIM32 IL23R ERCC2 AP5Z1 ATP6 ABCC6 MEFV CDKN2A MAPRE2 MC1R CDH3 TREX1 PRTN3 MTTP SAR1B MLX