SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation N171K

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 A Single-Center, Placebo-Controlled, Rising Dose to Tolerance and Safety Study of TD101, an siRNA Designed for Treatment of Pachyonychia Congenita

Pachyonychia congenita (PC) is a rare, autosomal dominant keratin disorder affecting the nails, skin, oral mucosae, larynx, hair and teeth. Pathogenic mutations in keratin K6a, K6b, K16 or K17 act via a dominant negative mechanism, leading to manifestations of the disease. The most disabling PC symptom is a painful plantar blistering and keratoderma that requires use of ambulation devices in more than 50 percent of patients. Despite our understanding of the molecular basis of PC, current treatment is limited to mechanical removal of the thick calluses, non-specific topical keratolytics, and oral retinoids, none of which alleviates blistering or plantar pain satisfactorily. A public charity, PC Project, has been founded to support the development of treatments for PC (www.pachyonychia.org). In collaboration with this charity, a small company, TransDerm, Inc., has developed a small interfering RNA (siRNA) that specifically targets a mutation in one of the PC keratins, K6a. As this siRNA targets a single nucleotide mutation, it will only be effective against PC subjects harboring this specific mutation. There are currently only six known patients who carry this mutation in the International Pachyonychia Congenita Research Registry, but three of these patients live in Salt Lake City (a mother and two of her children). We propose to perform a Phase Ib clinical trial to test the safety and tolerability of TD101 in PC patients carrying an N171K mutation. We will complete treatment of the adult patient prior to recruitment of the minors.

NCT00716014
Conditions
  1. Pachyonychia Congenita
Interventions
  1. Drug: TD101
  2. Drug: Normal saline (placebo)
MeSH:Pachyonychia Congenita Nails, Malformed
HPO:Abnormality of the nail

We propose to perform a Phase Ib clinical trial to test the safety and tolerability of TD101 in PC patients carrying an N171K mutation. --- N171K ---

Inclusion Criteria: - A positive genetic identification of the N171K mutation in the keratin 6a gene from a CLIA certified laboratory; - Witnessed, signed informed consent approved by Institutional Review Board/Ethics Committee; - A signed Health Information Portability and Accountability Act (HIPAA) authorization form which permits the use and disclosure of patient's individually identifiable health information for those enrolled in the United States of America; - Male or female subjects of any race 10 years of age and older; - Complete physical examination and medical history indicating no abnormalities that will interfere with study objectives; - Normal or not clinically significant baseline laboratory tests, including hemogram, ANA, serum chemistry panel, urinalysis, C3a, Bb, and APTT,PT; - Negative pregnancy test (females only). --- N171K ---

Primary Outcomes

Measure: Determine safety/toxicity of TD101

Time: 18 weeks, followed by 3-month wash out period

Secondary Outcomes

Measure: Determine efficacy of TD101

Time: 18 weeks, followed by 3-month wash out period


HPO Nodes


HP:0001597: Abnormality of the nail
Genes 678
RAB3GAP2 DKC1 COL7A1 ALOXE3 SMARCA4 COL7A1 TBX3 GJB2 SLC25A22 PIGP NOTCH2 COL7A1 MSX1 WNT5A VEGFC SHANK3 PEX1 EDA NFKB2 LIMK1 DLL4 KRT14 EXT2 COL7A1 FGFR2 PDE4D ALOXE3 LMNA SMARCB1 POC1A STXBP1 GJB2 KCTD1 PIGO CTSK LAMA3 KRT1 KIF11 MLXIPL EED CLEC7A EDAR TARS1 KRT14 ALG3 FGF9 NOTCH2 COL7A1 DYNC2LI1 CPLX1 BMP2 STING1 MBTPS2 ACAN LORICRIN PIGA DLX3 ZBTB20 DPF2 TP63 TINF2 SMARCD2 WDR35 HLA-C VEGFC KCTD1 NSD2 HGD SLC25A24 JUP DST PLEC ABCA12 GPC3 KCNH1 FOXC2 PERP ELN IKBKG NECTIN1 GJB6 ITGB4 PPP2R5D GTF2E2 ATP2A2 IL17RA TINF2 WNT10A AAGAB LMX1B CTLA4 LBR LMNA DVL3 TGM1 TSC1 ORC1 LAMA3 GTF2I TP63 AKT1 SCN9A BMPER ARID1A EZH2 PLEC RIPK4 NSD1 ERCC2 TSC2 SF3B1 POMP SOX4 NECTIN1 ACTG2 EVC LIPN TRAF6 PLCD1 ATP6V0A2 BRAF KRT6B MAP2K1 FLNA KRT83 TP63 KRT14 COL17A1 PNPLA1 EVC COL7A1 SETBP1 RLIM APC DSP KRT14 RTEL1 ATP2A2 TINF2 CD28 COL11A1 SLURP1 GJB6 ANTXR1 GPC4 COL11A1 WRAP53 ARHGAP31 WNK1 RNU4ATAC KRT5 GJA1 GLI3 AIP FGFR2 AP1B1 SLC25A24 ARID2 CAST LAMA3 BLM RAB3GAP2 GJB2 AIRE FOXP3 RSPO1 SMARCE1 BCR UBR1 INSR ENG PPP1CB GJA1 FTO PIGB LAMC2 COL14A1 DSG1 PARN CYB5R3 EDARADD SLURP1 DPM1 KRT14 NOP10 IFNG SOX11 ALOX12B RECQL4 CARD14 EVC2 HOXA13 WDR73 GJB4 LAMA3 IFIH1 LETM1 GJB2 MBTPS2 ANAPC1 CYB5A EVC2 LAMA3 COL7A1 MBTPS2 EGFR BMP4 COL7A1 CASK KRT5 TSC1 KRT6B PLEC FLT4 ZBTB20 NHP2 ARHGAP31 GJA1 RTEL1 MAF CDH1 STXBP1 EVC2 GJA1 RETREG1 LMNA PEX6 KRT5 KRT5 KRT14 ABCA12 ADAMTSL2 CYP4F22 RERE VAC14 DHX37 TET2 PLEC FLT4 NFKB2 ARID1B SOST LMNA NECTIN4 ABCA1 WNT7A SOST SMARCD1 HOXC13 TFAP2A EVC COL7A1 ECE1 FERMT1 POLR3A EVC HEPHL1 TNFRSF1B EDAR LMX1B NTRK1 ITGB4 WNT10A TERT SLC35D1 GPC3 DVL1 FLNB EVC2 ARX PIGN IFT122 CD151 RPS6KA3 RETREG1 PGAP3 NOP10 TP63 PEPD DPF2 ATP6V1B2 ZMPSTE24 LAMC2 NSD1 PIGQ COL7A1 ZMPSTE24 FIG4 FHL1 TRPV3 DNAJC21 PARN RAB7A WNT7A SASH1 EFNB1 DKC1 RIPK4 GPC4 CKAP2L CASR PIGY ACD ROR2 LRP4 RIPK4 NOTCH1 NSUN2 JUP WDR19 GPC4 TRRAP IL36RN SHOC2 IL11RA COL7A1 TP63 GDF5 ABCA12 STIM1 CRKL LRP4 CENPT UMPS CTC1 SCN9A PEX7 FGFR1 GLI3 HPGD DPH1 RBPJ MACROH2A1 GJA1 KRT1 KRT5 LIG4 CARD14 CWC27 LPAR6 KCNN3 IRF6 KRAS B3GALT6 PTDSS1 RECQL4 KRT1 NLRP1 FOXN1 COL7A1 TSC1 PLEC CTSC IFT122 PLOD3 HUWE1 KRT5 SLC39A4 GRHL2 ROR2 RAB3GAP1 KCNH1 KIF1A PITX1 TBX4 ITGB4 WNT7A NIPAL4 ADNP WDR35 CSTA EFNB1 KIF1A TERT KCNN3 TP63 COL7A1 SETD2 ACTL6B IRF6 GJB6 ATP6V1B2 LMNA SULT2B1 NOG SDR9C7 KRT5 DSG1 CTSK DLL4 NEPRO PGAP2 CLIP2 GLI1 KRT14 DSP FERMT1 SUZ12 COX7B ODC1 CD28 PTEN ZMPSTE24 BAZ1B FUCA1 ZMPSTE24 LAMC2 DPH1 ATR WHCR TRAF3IP2 EOGT KRT74 NOG PIGV ITGB4 ALOX12B CSTB AFF4 DSP RFC2 CTLA4 KIF15 LAMC2 RUNX2 UBE2A MBTPS2 SCN2A IFT43 GDF5 PIGL PLCD1 NSDHL TP63 LAMB3 IL17F KRT83 STAT3 HRAS SHANK3 EED ALOXE3 DMXL2 POP1 IL17RC ERCC3 TRPV3 TRIM8 NHP2 ATL1 CCDC22 KDSR TBC1D24 MSX1 KRT14 TP63 PPM1D MAP2K2 PORCN KRT81 KRT16 COL17A1 SLCO2A1 DKC1 CERS3 ITGB4 TBC1D24 MPLKIP PKP1 COL11A2 PEX6 TREX1 FZD2 EOGT KRT81 COL17A1 ZNF462 TP63 CAMK2G OFD1 SIN3A PARN EZH2 WRAP53 MCTP2 NPM1 ATP2A2 KRT17 ZSWIM6 PKP1 ITGA6 PIGN NOTCH1 UROD DLX5 ZSWIM6 LAMB3 HRAS KRT14 KRT86 COL17A1 NOG TSC2 INPPL1 SOX11 EBP IFT52 KLHL24 RSPO4 HCCS MMP1 NDUFB11 DSP TRPS1 KANK2 FIG4 WNK1 MVK TTC7A INSR GJB3 ADAM17 ARID1A UBA1 LMNA PLAGL1 FOXN1 KIF22 KRT85 KCNA1 ARX WASHC5 SMARCE1 PRKAR1A GNA11 ATP6V1B2 DYNC2LI1 TFAP2A CTC1 LAMC2 ITGA6 HYMAI GTF2IRD1 NEUROD2 IHH ACVRL1 TGM1 PRKD1 FZD6 PIGV KDF1 LAMB3 ERCC2 TERC SLC39A4 SATB2 KRT86 GPC4 SHOX TAF1 MBTPS2 LAMB3 IFT43 KDM1A DLX3 SIK1 PIGW AP1S3 ALOX12B EDARADD EDAR CDKL5 RPS6KA3 KCNH1 KDM1A GDF5 APC2 IHH TNFRSF1B TCTN3 SMARCC2 KRT9 PQBP1 ROR2 COL2A1 NHP2 MPLKIP SOX18 CDIN1 KRT16 TERT TGM1 KRT17 COL7A1 FLNB FAM111B RTEL1 HFE PORCN NOG DVL1 COL7A1 CDSN TERC SCN1B ABCA1 CTBP1 NSD1 KRT6A BMPR1B EDARADD TRPS1 KRT6A FGFRL1 KRT14 UBE2A TINF2 INSR MMP1 KRT16 ELN TSC2 ARID1B SRY STAMBP GJB2 BHLHA9 LRP4 MAPK1 WNT10A TERT PHYH COL7A1 WNT5A LMX1B NPR2 PNKP RIPK4 KDF1 COL7A1 RNF113A DOCK6 ADAM17 USB1 TBL2 STK11 SMARCAD1 KRT5 POLR3A FTL TAT SRCAP GSN SMARCAD1 TINF2 KCNH1 CPT2 DSG4 GPR101 GTF2H5 ACD NIPAL4 ANAPC1 TELO2 NXN GJC2 RNU4ATAC TGM1 IKBKG ITGA3 CTSC RNF13 DSP PEX1 FOXN1 GNAO1 DOCK6 PLEC
Protein Mutations 1
N171K
SNP 0