SNPMiner Trials by Shray Alag


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Report for Mutation H275Y

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 A Pharmacokinetic/Pharmacodynamic and Safety Evaluation of Investigational Intravenous Peramivir in Children With Influenza Disease (CASG 117)

The purposes of this study are to evaluate the pharmacokinetics (affect the body has on a drug), and pharmacodynamics (affect the drug has on the body) and safety of an experimental intravenous (within a vein) flu medication, peramivir, in children. Participants will include 63 hospitalized children with confirmed flu. Children will be grouped according to age and younger children will not receive drug until safety data from the groups of older children are reviewed. Hospitalized children may receive up to 5 doses of peramivir. Study procedures include: nasal/throat swabs, reporting any experienced side effects, physical examination including assessment of the nervous system, and blood sample collection. Participants will be involved in study related procedures for up to 28 days.

NCT01063933 Influenza Drug: Peramivir
MeSH:Influenza, Human

-Documented H275Y mutation (note: it is unlikely that resistance testing will have been completed for most subjects). --- H275Y ---

Primary Outcomes

Measure: Peramivir dose that provides area under the curve (AUC)24 between 60 microgram (mcg) hour(hr)/liter (L) and 94 mcg hr/L.

Time: Within 15 minutes prior to dosing, and at the following timepoints measured from the time of the start of the infusion: 1-1.25 hours (end of infusion), 2-3 hours, 5-7 hours, 10-12 hours, and 22-24 hours post-dosing.

Measure: Pharmacokinetic parameters for peramivir, including AUC24, maximum serum concentration (Cmax), half-life (T1/2), Clearance (CL), and time to maximum concentration (Tmax).

Time: Within 15 minutes prior to dosing, and at the following timepoints measured from the time of the start of the infusion: 1-1.25 hours (end of infusion), 2-3 hours, 5-7 hours, 10-12 hours, and 22-24 hours post-dosing.

Secondary Outcomes

Measure: Safety: overall incidence of adverse events.

Time: Day 1 to Day 28

Measure: Safety: the incidence of grade 3-4 adverse events or severe adverse events.

Time: Day 1 to Day 28

Measure: Safety: the incidence of adverse events considered to be related to study treatment.

Time: Day 1 to Day 28

Measure: Safety: the incidence of adverse events leading to discontinuation of study drug.

Time: Day 1 to Day 28

Measure: Virologic: proportion of subjects who are negative for viral ribonucleic acid (RNA) by reverse transcriptase-polymerase chain reaction (PCR).

Time: Day 3, 5, and 10.

Measure: Virologic: incidence of treatment emergent peramivir resistant virus.

Time: Study days 1, 3, 5, and 10.

Measure: Virologic: time to no detectable viral ribonucleic acid (RNA) by polymerase chain reaction (PCR).

Time: Study days 1, 3, 5, and 10.

Measure: Virologic: quantitative viral load over time.

Time: Study days 1, 3, 5, and 10.

Measure: Safety: the incidence of severe or grade 3 and 4 treatment related adverse events.

Time: Day 1 to Day 28

Measure: Safety: the incidence of treatment-related serious adverse events.

Time: Day 1 to Day 28

Measure: Safety: the incidence of serious adverse events and deaths.

Time: Day 1 to Day 28

2 Idylla Respiratory (IFV-RSV) Panel Clinical Testing and Sample Collection Protocol in Support of 510(k) Premarket Submission

This clinical study will collect fresh samples and perform laboratory testing on fresh and archived samples as described in the protocol.

NCT02786381 Respiratory Tract Infections Influenza, Human Respiratory Syncytial Virus Infections
MeSH:Infection Communicable Diseases Respiratory Tract Infections Respiratory Syncytial Virus Infections Influenza, Human
HPO:Respiratory tract infection

The IFV-RSV Panel is an in vitro PCR-based molecular diagnostic assay for the simultaneous qualitative detection of nucleic acids for Influenza A (including H1, 2009 H1N1, H275Y mutation of 2009 H1N1, H3), Influenza B, and Respiratory Syncytial Virus (RSV) (A and B) on nasal swab (NS) direct to cartridge or nasopharyngeal swabs (NP) in viral transport media (VTM) in adults, adolescents, and children. --- H275Y ---

Primary Outcomes

Description: Product Performance will be assessed based on samples collected in 2015/2016 season (average of 6 months) and archived samples.

Measure: Product performance as measured by positive and negative agreement to a predicate

Time: Specimen collected during the IFV-RSV season 2015/2016 will be tested within 1 day of enrollment. The Product Performance will be assessed at study completion, an average of 6 months.


HPO Nodes


HP:0011947: Respiratory tract infection
Genes 645
CCDC103 GATA6 IL2RG COL13A1 NCF4 DNAI1 EPG5 CSPP1 RYR1 ABCA12 CACNA1B IL2RG POLR3A DNAAF2 TRAIP CLCA4 JAK3 SOX11 OFD1 IL17RC SLC12A6 IGHM TCTN3 NECTIN1 INSR IER3IP1 GAS8 DCLRE1C BCR NOTCH3 CLEC7A PSAP VPS33A LRRC56 PWRN1 ATM TGFB1 BCL10 RAG2 CCDC39 CD8A NKX2-1 OCRL DNAH11 CHD7 TINF2 FOXP3 RANBP2 CR2 RNU4ATAC SETBP1 CD3D MALT1 PLP1 HYDIN SPAG1 TAP2 AGA IRAK4 DNAH9 NELFA IL7R TNFSF12 RUNX2 DNAAF4 IL17RA ADA DNAI2 DNAH5 GRHL3 FOXP1 ATP6V0A2 DNAH1 LCK DNAI1 SMARCA4 ORC6 ELP1 MASP2 DCLRE1C SLC5A7 RSPH3 MTHFD1 NIPAL4 G6PC3 CCNO IRF8 CHAMP1 SLC52A3 CCDC39 PIK3CD SDCCAG8 NHP2 EPM2A SCNN1A MYSM1 CD81 TNFSF12 UNC119 CCDC65 ARMC4 RAG1 ARID2 LRBA NCF2 SMN1 CDCA7 FLNA DCLRE1C RMRP TBC1D23 TPM3 NFKB2 DSG1 NKX2-1 SFTPA2 SMPD1 UBE2A RAG2 FAT4 SNORD116-1 IPW MYO5A WAS CFTR KDM6A ICOS RYR1 SLC25A22 NFKB1 DNAH11 RPGR RAG1 SOX4 NCF1 ARSB NME8 ALMS1 ARMC4 DCLRE1C TSC1 STAT3 STAT3 CR2 TSC1 RAB3GAP2 GFI1 ARID1A TAF1 HACD1 ALB RNF125 ADAMTS3 UMPS LAMTOR2 LEPR SMARCB1 IDUA CARD11 LAMB2 CFTR CCDC151 USP9X LEP TECPR2 DNMT3B RSPH4A COL6A1 TNFSF11 BIRC3 RYR1 PRKDC GLB1 TYK2 PEPD HLA-DPA1 TCIRG1 LRRC56 CFTR FBLN5 SNORD115-1 TNFRSF13B SCNN1G GNPTAB CORO1A CXCR4 DNAAF6 IDUA SNX10 MED25 CFAP410 FCGR3A BTK GMNN ABCA12 RAC1 ACP5 EDARADD CD19 POLE GBA LAMA2 STAT1 LIPN NFKB2 DRC1 VPS13A WAS NFKB1 NFKB2 STK36 AK2 MGP GBA CCDC22 SLC1A4 RNF113A DNAJB13 SULT2B1 BLM TAP1 INPPL1 TNFRSF1A CFAP298 ZBTB24 PIK3R1 RPGR DNAH5 DNAL1 CFAP298 GATA2 BTK SMPD1 ICOS DCTN4 DKC1 FUCA1 DNAAF1 LIG4 CSF2RB ACADVL PRPS1 RAG1 GAS2L2 AGRN RIPK1 FMO3 SNAP25 CSF2RA PTPN22 INPPL1 ALPL MGP MAGEL2 HGSNAT DNAAF5 ELN TTC25 SLC25A1 DNAAF3 RAG2 TGFB1 FCN3 PMM2 RSPH9 CYBB SMARCE1 ASAH1 COL6A3 AICDA SLC35A1 ELANE IKBKB PGM3 CCDC40 CCDC103 ERCC2 KAT6B PEPD KRAS MCM4 CD3E COG4 SPINK5 CD19 SMARCC2 WASHC5 SLC18A3 WRAP53 KCNJ6 GLI3 STING1 MANBA DNAAF5 RFC2 MAPK1 ERCC3 CD3D WIPF1 MS4A1 TERC TGFB1 B2M POLA1 SHROOM4 NBN BLNK CYBC1 CFB IL7R SP110 MCIDAS MYL2 CTLA4 PRTN3 IL2RB CCDC40 EP300 IFIH1 ATM CHAT SCN10A KIF1A GNPTAB CRELD1 DNAJB13 TERT SCNN1B JAK3 ZMYND10 MKRN3-AS1 TPM2 CD247 DOCK8 MBTPS2 SCNN1A TRAF3IP2 PRKCD ACTA1 RSPH4A NGLY1 FLI1 COLQ LETM1 NFE2L2 CCNO RSPH1 TBCE VAMP1 TPP2 SAMD9L ZBTB24 ZAP70 CD3G NR2F2 OSTM1 LAMTOR2 TK2 GUSB CARMIL2 NRAS LRRC8A ARID1B CTCF SELENON LIMK1 GAA SLC46A1 CHRM3 TBL2 MYSM1 DNAI2 SLC29A3 RELB SDR9C7 CD3E NADK2 SPAG1 COL11A2 TNFRSF13C SFTPC RSPH3 SCNN1G IL2RG SH3KBP1 CD79B SRP54 EPG5 ICOS FCGR2A BACH2 UBB AFF4 MAP3K20 KIAA0586 IL7R HPS6 HERC2 TERT GSN RFX5 ERF IKBKB IL17RA SCNN1G LEPR CLCN7 SCN11A DPM2 NCF2 AFF4 EXOSC9 TRPS1 CCBE1 MYH3 ELANE NME8 COG6 CASP8 CARD11 DNAAF4 SLC35C1 DNAAF1 DPF2 KMT2D CD79A CLIP2 USB1 PYROXD1 LYST CCDC114 NBN BLNK TIRAP RFXAP PCGF2 TCF3 MECP2 CTSC TAPBP DNAAF2 NOTCH2 RSPH1 HLA-DPB1 GNS CD81 PGM3 SCNN1B ADA EGFR NCF4 GTF2E2 STAT1 PARN CCDC114 CFI RFXANK TNFRSF13C IL21R MSN TNFRSF13B RFXANK TBC1D24 SLC25A24 SGSH PTPN22 GATA4 PNP NFIX USB1 TSC2 CIITA IDUA GALNS RFXAP ADA DNMT3B RAG2 ITGA3 CFAP300 STX1A EHMT1 ITGA7 ADNP NGLY1 BTK MYO9A TTC25 SPEF2 IL2RG NCF1 ROR2 SCN9A SCNN1A TNFRSF13C MKRN3 NSD2 GTF2H5 ZNHIT3 TARS1 CXCR4 PIK3R1 RTEL1 TRIP11 CD55 OFD1 FOXJ1 HELLS ZMYND10 CYP4F22 NDN ALOXE3 COG4 NFKBIA AP3D1 CD79A PLEC SFTPC GAS2L2 MPLKIP RAG1 ALOX12B IGH RAG1 USP9X PIGN ALMS1 XIAP GBA NXN TFRC TSC2 ACTA1 PNP TNFRSF11A PCNT CD79B HLA-B GTF2I SH2D1A IL21 SMARCD2 ZAP70 RNU4ATAC DNAAF3 IL2RA P4HTM AGA ARID1B RSPH9 SAMD9 IGLL1 GUSB TNFRSF13B LTBP3 CYBA ASAH1 NPM1 IKZF1 CYBA KIAA0556 RFX5 MS4A1 ALG12 JAGN1 SLC26A2 CR2 NAGLU NSMCE3 PLG UNG CFAP221 SGCG COL13A1 DNAAF6 SIK1 LYST SNRPN TRIP4 PWAR1 ECM1 MESP2 TGM1 COL11A2 IRAK4 TCIRG1 TBC1D24 TIMM8A SELENON CD19 RAG2 IKBKG DLL3 MUC5B IL17F NPAP1 ELP1 BAZ1B HYDIN CTLA4 ZNF341 CIITA EXTL3 KPTN CACNA1C XIAP PEX13 PLCG2 COL6A2 CYBB PIK3R1 CTC1 LRRC6 NOP10 RNF168 IFNGR1 GAS8 CFTR PLOD1 SYT2 IGHM PANK2 WDR19 PTPRC MESP2 FOXP1 FLNA TBCD IGLL1 CRKL VPS33A SMN1 NIPBL LEP WDR34 SCNN1B NHLRC1 CCDC151 DOCK8 LRRC6 GTF2IRD1 CREBBP TBX6 DDR2 CCDC65
Protein Mutations 1
H275Y
SNP 0