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SNPMiner SNPMiner Trials (Home Page)


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
Conditions
  1. Influenza
Interventions
  1. 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
Conditions
  1. Respiratory Tract Infections
  2. Influenza, Human
  3. 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 785
SMARCA4 TBC1D24 SNX10 SLC1A4 GRHL3 CFAP298 RSPH4A CARD11 CD3E COG4 PGM3 ECM1 GNPTAB LIMK1 CD247 NTRK1 ZBTB24 MANBA CLEC7A IL2RG TARS1 DNAAF2 NSD2 DNAJB13 DNAAF3 EXOSC9 NELFA EDARADD STING1 MAP3K20 HLA-DPB1 OFD1 SMARCD2 ABCA12 SCNN1G SLC25A24 BLNK GAS2L2 TYK2 HELLS FOXH1 DNAAF6 INPPL1 OCRL GTF2E2 MASP2 COL11A2 MYO5A FCGR2A PRKCD RANBP2 IL21R GATA4 TSC2 LTBP3 CYBA SPINK5 CTLA4 KCNJ6 FOXH1 NAGLU GUSB SHROOM4 LIPN RNU4ATAC TPM3 HERC2 EPG5 GAS1 FBLN5 NRAS ACP5 MCIDAS MAN2B1 TIMM8A COL13A1 PTPN22 SLC35A1 SLC46A1 HGSNAT LYST ZNF341 XIAP LRRC56 IGH NODAL LETM1 TRIP4 EFEMP2 NCF1 MCM4 SFTPC RSPH4A IL2RB RAG2 RAC1 DISP1 WRAP53 PANK2 TNFRSF13C ARID2 SBDS NPAP1 ACTA1 BLM CD40LG ICOS CCDC103 SNORD116-1 FOXP3 TDGF1 IL6R CIITA GLI2 FGF8 DNAJB13 CCDC39 IDUA GATA4 NOP10 GNPTAB TBX6 MKRN3 SNORD115-1 ELANE SMN1 KIF20A PGM3 PEX13 CDON IL7R SCNN1A STAG2 PLEC FLI1 SIX3 TCIRG1 ZNHIT3 LAMA2 CYP4F22 DNAAF4 FAT4 ZIC2 CSF2RB CD55 NFKB2 PEPD TNFRSF13B FGF8 STK36 RFX5 RYR1 SHH DCLRE1C SLC25A22 TLL1 AP3D1 NODAL ZMYND10 NOS1 TPM2 TRIP11 ZIC2 CTCF RAC2 CTLA4 PLP1 GAS1 EFL1 FMO3 RYR1 CIITA DLL3 PRTN3 ABCA3 AGA PCNT RSPH1 ZAP70 NDN NHLRC1 DNAH1 SCNN1G ACADVL DCTN4 PTCH1 DKC1 GMNN TNFRSF13B GLI2 MCIDAS SCN11A ROR2 IVNS1ABP ODAD1 MESP2 SLC12A6 MGP CFAP300 RSPH9 UMPS KRAS SFTPC COL13A1 SNRPN GAS8 CACNA1B AK2 INPPL1 CHAT CCDC40 IL2RG CD3G TASP1 SLC18A3 SCNN1G KAT6B STAT1 ACTA1 MUC5B SMN1 TAP1 MED25 CHD7 COG4 SULT2B1 GBA SPEF2 SDR9C7 CFI IDUA FUCA1 SAMD9L FLNC NCF4 LRBA DRC1 RFXAP KIAA0586 DNAH5 DOCK8 MAN2B1 ATM LAMC2 TRAF3IP2 CR2 GALNS TAP2 AFF4 UNG DNAAF4 RFC2 NCF1 CD3D RELB ODAD4 TDGF1 PMM2 RUNX2 SGSH WAS IL17F IL6ST IRAK4 LRRC8A TAPBP CCNO PLCG2 HK1 MYL2 LEP ERCC3 IGLL1 EPM2A CCDC65 CD79B FLNA XIAP CYBB CD3E AFF4 MESP2 POLE FOXH1 HYDIN TNNI3 NFIX BCL10 RNF168 NEU1 NPM1 IGLL1 TGIF1 WAC ADA UNC119 PIGN GAA CD8A IKZF1 TSC2 LEPR ARSB COG6 VPS51 COLQ WDR1 BTK GAS1 TTC12 WASHC5 CD3D STAT3 CCDC40 ASAH1 DNAI2 LAMB3 NFKB2 PTCH1 COL6A3 PAFAH1B1 FOXH1 MBTPS2 RYR1 TNFRSF13B TGIF1 CLCN7 SP110 COL6A1 TCTN3 SMARCC2 PNP GLUL PKHD1 ALPL ACP5 WDR19 TDGF1 TFRC MGP DLL1 SHH TGIF1 EHMT1 EP300 ITGA7 ERF DNMT3B FGFR1 HLA-DQB1 SPAG1 SRP54 UBE2A TINF2 CARD11 ARID1B SELENON RMRP WAS NEK10 MAPK1 GATA6 SCNN1B SYT2 USB1 DLL1 POLR3A PRPS1 RSPH1 TNFSF12 PIK3R1 IER3IP1 GSN NME8 LIG4 IL7R ALB COL11A2 TGFB1 DLL1 IFNGR1 LAMTOR2 DNAAF5 NXN PTPN22 TBX20 RAB3GAP2 ALOXE3 ZIC2 LRRC56 HLA-DQA1 KIF1A GAS8 PSAP DNAI2 NOTCH2 DPM2 CD81 NODAL DNAH9 TBC1D23 NFKB2 ORC6 SMARCB1 SIX3 LAMA3 DNAH5 ATP6V0A2 EGFR ZBTB24 LYST ODAD4 CACNA1C CYBB RNF125 DPF2 CITED2 GATA6 IRF8 DISP1 GAS1 ABCA12 ODAD3 DNAAF2 MECP2 BIRC3 SFTPB ELN CFTR SCNN1A KMT2D MDM4 IL17RA CCDC39 IL17RA FCGR3A VPS33A ODAD1 IKBKB RSPH3 CREBBP TNFSF11 SCNN1B AGA SCNN1A ADA RAG1 RAG1 TGM1 DLL1 SIX3 CARMIL2 GTF2I CCDC65 ARID1A CFB RAG2 SCNN1G SOX4 NECTIN1 ZMYND10 SGCG DNAAF6 CDON TAF1 IGHM LAMB2 LEP CD79A CFTR HPS6 CCBE1 PWAR1 RPGR VPS33A BTK SCNN1A IL7R EPG5 PIK3CD NBN HYDIN PSMB8 VAMP1 SDCCAG8 SHH RAC2 CD19 HLA-B GLI2 FLNA ALMS1 SCNN1B ITCH SPAG1 DISP1 DNAAF5 IDUA FGF8 MSN SMARCE1 BCR SERPINA1 PRPS1 NIPBL RAG2 ZAP70 TK2 FGFR1 CREBBP ALOX12B RFXANK IFIH1 GBA USP9X IKBKB MYOD1 CCNO TBCE GBA TSC1 PLCG2 G6PC3 MS4A1 CD19 EXTL3 GUSB DYNC2I2 NGLY1 SAMD9 NME8 TRAIP PYROXD1 SIK1 SLC26A2 RAG1 ALMS1 NKX2-5 IL21 FOXP1 LAMTOR2 ACTC1 FOXJ1 ARID1B SCNN1B CYBC1 CSPP1 SMARCD1 JAK3 STAG2 PCGF2 CXCR4 LEPR POLA1 PTCH1 RPGR ASAH1 ASAH1 RAG2 MYSM1 BTK DCLRE1C CFTR KNSTRN FOXJ1 PEPD TERT CDON TCF3 NKX2-1 ICOS DNAH11 OSTM1 ALG12 KATNIP TGFB1 KPTN ADA TPP2 MKRN3-AS1 SLC25A1 MYH6 HLA-DPA1 FBLN5 SRP54 TNFSF12 IGHM NEK10 RSPH3 TTC12 CRKL RASGRP1 SELENON DOCK8 GLI3 SMC1A DCLRE1C DNAL1 RIPK1 SFTPC CD79A TNNT2 DNAJC21 TSC1 CTSC USP9X SFTPA2 PIK3R1 TNFRSF13C NR2F2 CFTR ADNP DNMT3B TCIRG1 CFAP221 TNFRSF13C NFKBIA NFKB1 NEPRO SLC52A3 CLIP2 CRELD1 FCN3 NCF2 SIM1 BAZ1B P4HTM DNAAF3 GAS2L2 CCDC103 UGP2 GATA2 ICOS CDCA7 SIX3 JAGN1 CLCA4 STX1A MYH3 STAT3 DNAH11 LRRC6 SLC35C1 CDON IL17RC CD79B KDM6A UBB NHP2 NCF4 CCDC22 MAGEL2 TBC1D24 MTHFD1 MIR140 BLNK LCK NFE2L2 CSF2RA MYSM1 DNAI1 RAG2 ZIC2 HACD1 MPLKIP TLL1 COL6A2 OFD1 PARN SCN9A FGF8 MAGEL2 FANCF CORO1A PIK3R1 PRKDC CR2 EP300 PIK3CD CASP8 CRLF1 PTCH1 NCF2 SH3KBP1 CR2 DNAAF1 AGRN RFXANK TDGF1 IL2RA SOX11 IL2RG ATM ODAD3 CYBC1 SNAP25 SMPD1 TRPS1 SHH ELP1 GLI2 CHRM3 IL2RG PNP BACH2 CREBBP SH2D1A WIPF1 DDR2 CTC1 TGIF1 RFX5 DCLRE1C CFAP410 GTF2IRD1 SLC5A7 ERCC2 TERC ADAMTS3 TBX20 ODAD2 SLC29A3 MALT1 DSG1 TECPR2 IPW NGLY1 CYBA EP300 TNFRSF11A DZIP1L CD81 LRRC6 RTEL1 RAG1 DNAI1 MYPN NFKB1 ODAD2 TBCD ELANE CXCR4 PWRN1 TNFRSF1A FOXP1 MYO9A DNAAF1 TGFB1 RFXAP RAG1 SMPD1 CREBBP SETBP1 USB1 NADK2 MS4A1 CHAMP1 TERT NKX2-1 PTPRC SCN10A ELP1 POLR2A NODAL GFI1 PLG RNF113A TBL2 RSPH9 CFAP298 CD19 JAK3 AICDA GLB1 GTF2H5 NIPAL4 PLOD1 RNU4ATAC ITGA3 NBN GNS FOXN1 STAT1 DISP1 B2M
Protein Mutations 1
H275Y
SNP 0