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 Virus Diseases
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


Respiratory tract infection
Genes 633
TIMM8A DNAH9 SIK1 ARID1B NFKBIA GTF2H5 IER3IP1 TNFRSF11A GUSB TBC1D24 BIRC3 IL17RA SPAG1 MSN WDR34 CTSC GAS2L2 NIPBL BTK NFKB1 FCGR3A CRELD1 IGLL1 RNF168 ZBTB24 STAT3 RFX5 TAF1 MKRN3 PLEC CFTR IRAK4 COLQ DNAAF4 TCTN3 MYO9A TGFB1 LEPR SLC18A3 TAP2 LAMA2 PEPD NGLY1 CFAP300 WAS DNAI1 TBCD DNAAF2 SELENON IL2RG IRAK4 ARMC4 SOX4 RSPH1 IFNGR1 GLI3 ALOX12B DNAL1 ZMYND10 UNG NRAS RFXAP IL2RB NKX2-1 RSPH9 PLOD1 SPINK5 SCNN1B GBA GAS8 CFAP298 CLCA4 GNPTAB LEP CLIP2 CCDC65 CD3G FCN3 CYBA SMN1 TRIP4 EP300 USB1 UBB DOCK8 LAMTOR2 TBC1D24 NECTIN1 SAMD9 SCNN1G CCNO CIITA MUC5B HLA-DPB1 DNAAF1 LCK ICOS NPM1 SPAG1 CCDC40 TRAIP CARD11 RSPH4A TBL2 ASAH1 PTPRC ALMS1 RUNX2 DNAAF4 NOTCH3 SH3KBP1 SNORD115-1 DNAI1 BACH2 RAG2 TSC1 TNFRSF13C IDUA IL2RG DNAAF6 GALNS IDUA SLC25A22 FUCA1 B2M SFTPC FLI1 CD3E MGP CD8A ELANE SULT2B1 TCF3 SLC29A3 RELB TPM2 CCDC103 ACTA1 HELLS FCGR2A LAMB2 SLC5A7 SPEF2 AGA SDR9C7 PYROXD1 CLEC7A HERC2 KRAS SMPD1 SOX11 CD247 MESP2 DDR2 GTF2I BLNK KIAA0586 BLNK FOXP1 SMARCA4 EDARADD SGCG MYSM1 ARID1A GNS CD79B MPLKIP LYST NPAP1 NCF1 CYP4F22 SRP54 TPP2 RNU4ATAC TRIP11 NGLY1 LRBA DNMT3B P4HTM SELENON STX1A TRPS1 COL13A1 TNFRSF13B DNAAF5 VPS13A CD81 INPPL1 CARMIL2 TAP1 NOTCH2 MESP2 GATA2 SNX10 CSF2RB SDCCAG8 JAK3 TBCE DOCK8 SHROOM4 RTEL1 OSTM1 CCDC151 LETM1 SMPD1 IL21 DNAJB13 JAK3 RNF125 INSR STK36 SCN10A IL7R MYH3 POLA1 CD19 CR2 ARID1B CD3D RSPH3 TAPBP CYBB DRC1 VAMP1 ADNP DCLRE1C PTPN22 NDN SGSH ARSB LRRC56 LRRC6 SP110 CCDC40 SLC25A1 ASAH1 PCGF2 BTK CCBE1 COL6A1 GATA6 PGM3 COG4 PSAP SLC46A1 SCN9A IKBKB CFB GAS2L2 TGFB1 PEPD SMARCC2 RNU4ATAC MYL2 SCN11A COL6A2 POLR3A GTF2E2 TSC2 WRAP53 ITGA3 CFI SCNN1B BTK CCDC22 DNAI2 CFTR ZAP70 DCTN4 CD79B RYR1 ADAMTS3 CD81 PLG SYT2 USP9X DKC1 KIF1A PRPS1 ELANE AFF4 ALB NME8 TNFRSF13C MAP3K20 TNFSF12 TIRAP STAT3 CCDC114 ADA SMARCE1 DSG1 PIK3R1 RPGR CREBBP HACD1 PRTN3 NFE2L2 DPM2 FLNA RMRP DNAH11 ERF EPM2A HYDIN G6PC3 ATM GAS8 SNORD116-1 DNAH11 NFKB2 EPG5 BCL10 DPF2 BAZ1B ERCC2 AK2 EHMT1 MS4A1 DNAAF3 CCDC151 LIG4 NFKB2 FBLN5 ZMYND10 ATP6V0A2 IL17RA TARS1 NXN COL6A3 TCIRG1 RFC2 WASHC5 WIPF1 GATA4 NOP10 RFXANK RSPH4A HLA-B SLC52A3 NME8 NHP2 CXCR4 GSN PCNT TNFRSF13B LEP IL17RC AGRN CORO1A CCDC65 RPGR NADK2 CD55 GTF2IRD1 IL17F ALG12 COL11A2 NHLRC1 ABCA12 LTBP3 SCNN1B ABCA12 NSD2 TECPR2 MANBA PARN GFI1 EPG5 NBN FLNA RNF113A CCDC39 PMM2 SCNN1A ICOS RFXANK TNFSF12 PWRN1 CARD11 SFTPC MGP USB1 OFD1 JAGN1 LRRC6 TYK2 IL21R FMO3 CFTR AGA PLP1 STAT1 NR2F2 CYBC1 SLC35A1 HLA-DPA1 RIPK1 DNAAF1 ORC6 RAG2 HPS6 CACNA1C GMNN IDUA RYR1 CFAP298 KIAA0556 TNFRSF13B AICDA KDM6A CLCN7 PANK2 SAMD9L RANBP2 ROR2 ELN CIITA TPM3 RSPH3 ADA DNAAF2 KMT2D ZNF341 GBA TNFRSF1A IL7R LEPR NAGLU RAG2 COG4 SCNN1A IGHM DLL3 TRAF3IP2 CSF2RA LAMTOR2 BLM NSMCE3 UMPS PGM3 RFX5 GRHL3 EGFR ELP1 PNP LIPN DNAH5 HGSNAT SETBP1 ECM1 TTC25 CR2 ADA MASP2 SFTPA2 AP3D1 MBTPS2 RAC1 TTC25 KAT6B ZAP70 IFIH1 ALPL IGHM SCNN1G DNAAF5 RAG2 NBN FAT4 SNRPN CD19 TGM1 ACADVL TNFSF11 CYBB PTPN22 PEX13 TK2 CACNA1B GAA PRKDC ARMC4 ALOXE3 CR2 CYBA RAG1 NCF1 SNAP25 CDCA7 IPW CXCR4 TERC RAG1 CD19 CD3E CD79A DNAH5 TFRC MCM4 FOXP3 IRF8 CFAP221 CTC1 LYST DNAI2 KCNJ6 EXOSC9 CD3D CRKL RYR1 CCDC114 PLG DCLRE1C SLC25A24 DCLRE1C LRRC8A ICOS TGFB1 CTLA4 XIAP IL7R IKBKG VPS33A FOXJ1 NELFA IL2RG CASP8 RAG1 CHAT IGLL1 CFAP410 CCNO ALMS1 NCF2 UNC119 GLB1 CHRM3 RSPH1 TNFRSF13C ERCC3 LIMK1 CTLA4 CD79A RAG1 SLC26A2 STAT1 DNAH1 RSPH9 CFTR NCF2 WAS MECP2 CCDC103 IL2RA SLC12A6 ACTA1 IKBKB ATM DNAAF3 LRRC56 RAB3GAP2 PIGN MAGEL2 IKZF1 PRKCD ACP5 CHAMP1 SLC35C1 MKRN3-AS1 HYDIN SH2D1A MTHFD1 SMARCB1 NCF4 RAG1 XIAP MAPK1 PIK3R1 TERT PWAR1 CHD7 IGH OCRL MS4A1 DNAAF6 PIK3R1 SMARCD2 CCDC39 TBX6 UBE2A STING1 NKX2-1 ELP1 OFD1 COL13A1 ARID2 ZBTB24 TINF2 MYO5A WDR19 GNPTAB COL11A2 NFIX RAG2 SCNN1A RFXAP PLCG2 USP9X NFKB1 NIPAL4 NCF4 ZNHIT3 MALT1 SCNN1G IL2RG BCR POLE TCIRG1 INPPL1 TBC1D23 GBA DNAJB13 GUSB PIK3CD ITGA7 CSPP1 SMN1 TERT DNMT3B NFKB2 MCIDAS DCLRE1C