SNPMiner Trials by Shray Alag


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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 Pachyonychia Congenita Drug: TD101 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


Abnormality of the nail
Genes 659
RIPK4 LETM1 ARID1B GTF2H5 UBR1 TGM1 STXBP1 KRT16 TBC1D24 IL17RA ZSWIM6 ORC1 RIPK4 TP63 CTSC RTEL1 RECQL4 MBTPS2 ERCC2 PORCN CTC1 TP63 IHH GPC4 TRPS1 LAMA3 IHH KRT83 TERT DSP SF3B1 NOP10 HYMAI GLI1 TP63 NSDHL KRT5 NOG ENG MBTPS2 LRP4 GJB6 KCNN3 TCTN3 ATP2A2 LMNA KRT1 STXBP1 ZMPSTE24 INPPL1 FGFR2 IRF6 KCNA1 EFNB1 ECE1 MBTPS2 EVC2 TERC RIPK4 ATP6V1B2 KDSR KRT81 ROR2 COL2A1 PITX1 SHOC2 HGD COL11A1 TAT KRT5 GDF5 WDR73 PARN GNAO1 SOX4 BMPR1B COL7A1 DYNC2LI1 LAMC2 GLI3 PLAGL1 CDKL5 KRT17 ALOX12B CERS3 TRPV3 TINF2 FTO PPM1D PIGV MECP2 FOXN1 BMP4 CYB5A NPR2 PORCN NLRP1 CDKL5 SLCO2A1 MLXIPL SOST MCTP2 CLIP2 GDF5 EDARADD LMNA CTBP1 KCNH1 LORICRIN EXT2 INSR NECTIN1 SHANK3 COL7A1 PIGW ARX KRT17 TINF2 RBPJ NPM1 KIF11 SATB2 KIF1A AP1B1 NTRK1 EOGT TBL2 KRT6A TBC1D24 RUNX2 PLEC PLEC KRT14 IFT43 RSPO1 CAST ATP6V1B2 RLIM KRT5 TSC1 ABCA1 EDAR PIGV DNAJC21 RAB3GAP2 IFT122 CD28 AIP KRT5 PNPLA1 SULT2B1 KRT6A DOCK6 JUP TBX4 COL7A1 MMP1 GJB2 CD151 SDR9C7 CLEC7A CWC27 KRT6B ZSWIM6 ADAM17 RSPO4 WNT10A GPC3 IRF6 SOX11 KRT1 GJB6 INSR GTF2I IFT122 KDM1A SLC25A22 SMARCA4 EED DLX3 FLNB FAM111B DVL3 KRT14 GJB2 FOXC2 ARID1A LAMB3 KDF1 MPLKIP ABCA12 CASR PEX1 GABBR2 MAF ROR2 CYP4F22 EVC2 GJA1 WNT5A LPAR6 CTSK FLNA TRPS1 JUP COL7A1 DPF2 ANTXR1 ADAMTSL2 FGF9 POLR3A DSG4 ITGB4 CTSC NOTCH2 TTC7A NOG POC1A COL17A1 RTEL1 WDR35 COL7A1 KRT14 DVL1 MAP2K2 WHCR EDAR GJB3 KRAS KCTD1 TP63 RETREG1 MVK LAMB3 HFE ARID1B SLC25A24 DVL3 FIG4 CYB5R3 EBP RIPK4 GPC4 ADNP CPT2 KRT85 FTL ANAPC1 NSD1 INSR COL14A1 PLEC LAMA3 PDE4D RERE CARD14 GJA1 LMX1B COL7A1 EVC2 RAB7A EDAR EZH2 LMNA FOXN1 EED COL7A1 PEPD SOST SMARCC2 ALOX12B DSP COL17A1 RNU4ATAC STK11 GPR101 WNT7A POLR3A GTF2E2 MAP2K1 PIGA GJA1 TSC2 WRAP53 KRT14 ITGA3 CCDC22 ARX LRP4 TINF2 ALG3 EVC2 DKC1 ARHGAP31 GLI3 CKAP2L BHLHA9 LMNA WNK1 MSX1 SASH1 CDSN TREX1 ATP6V1B2 KRT14 DSP SLC35D1 GPC3 GJB2 MSX1 TRIM8 ATR STAT3 COL7A1 ACVRL1 DYNC2LI1 PTEN DLL4 SMARCE1 TP63 ACTL6B CTSK STIM1 HRAS IFT43 COL7A1 LAMA3 PTDSS1 BMPER APC APC2 BMP2 NHP2 HEPHL1 ALOXE3 COL7A1 PHYH ACTG2 DST KRT5 WNT5A SCN9A NFKB2 NSD1 RAB3GAP1 SETD2 DPF2 TP63 BAZ1B ERCC2 KRT81 ARHGAP31 DSG1 UBE2A SLURP1 CSTB TARS1 NXN KIF15 TERT RFC2 WASHC5 COL17A1 DLL4 PKP1 KIF1A NOP10 UROD ACAN TNFRSF1B GJB6 NHP2 GSN FZD2 IL17RC PEX6 PIGQ SIK1 MBTPS2 GTF2IRD1 KRT14 IL17F WNT10A ABCA12 MPLKIP SMARCE1 GJB4 AP1S3 GJA1 PARN UBA1 POMP RNF113A ATP6V0A2 PEX7 MECP2 KRT1 ARID1A FOXG1 IFNG POP1 USB1 SCN2A OFD1 GJC2 PLCD1 FLT4 GJB2 PIGP PIGY SLC39A4 SMARCAD1 COL7A1 PQBP1 IFT52 KRT6B EZH2 LBR DLX3 FGFRL1 HPGD PRKD1 TERT EVC KRT14 DPM1 ACD VEGFC FGFR1 NEUROD2 TSC1 ROR2 FUCA1 PGAP2 RPS6KA3 ELN KRT16 LMX1B NOTCH1 KRT5 GRHL2 WRAP53 FHL1 TSC1 WDR35 WNT10A IKBKG SLURP1 PERP PLEC TRAF3IP2 COL7A1 IL11RA ATL1 COL7A1 LIG4 MACROH2A1 ZMPSTE24 UMPS AAGAB ELN SRY TNFRSF1B HCCS WDR19 TP63 PLEC KRT9 NOTCH2 B3GALT6 CTLA4 SLC39A4 DKC1 LIPN PIGN KRT5 KRT74 COL7A1 FLT4 EFNB1 MBTPS2 SHANK3 LAMC2 IFIH1 RPS6KA3 SUZ12 KRT16 FIG4 FERMT1 COL7A1 DLX5 NIPAL4 TFAP2A ITGB4 TSC2 TGM1 PARN GDF5 AKT1 ACD GNA11 ALOXE3 ITGB4 HOXA13 KRT86 NSD2 AIRE LAMB3 LMNA TP63 SOX11 ABCA12 TERC TSC2 COL11A2 CASK LMNA KLHL24 KANK2 HUWE1 FOXP3 CSTA TAF1 ITGA6 CTC1 SCN9A SRCAP TRPV3 PIGL NOTCH1 KRT83 CRKL GPC4 CPLX1 DOCK6 VEGFC TRRAP SETBP1 KCNH1 CTLA4 SLC25A24 BRAF GJA1 NSUN2 HOXC13 TP63 PPP1CB PIGO NOG CARD14 TBX3 KCNH1 ZMPSTE24 ATP2A2 KIF22 SMARCAD1 LAMC2 ERCC3 LIMK1 EVC RETREG1 ALOXE3 LAMA3 PEX1 NSD1 ZBTB20 KDF1 TRAF6 TFAP2A ITGB4 COX7B DSG1 NECTIN4 PGAP3 GPC4 RAB3GAP2 PIGN KRT5 PLOD3 LAMA3 FLNB LRP4 PLEC EDARADD TINF2 WNT7A EOGT CDH1 KRT14 COL11A1 DPH1 SMARCB1 LAMC2 VAC14 MAPK1 COL7A1 COL7A1 EDA CAMK2G C15ORF41 ALOX12B SHOX ATP2A2 IL36RN SMARCD2 UBE2A STING1 DVL1 EVC ARID2 NHP2 ZMPSTE24 PNKP NECTIN1 ZBTB20 PEX6 TINF2 KCTD1 RNU4ATAC WNT7A DKC1 ROR2 RECQL4 CD28 HRAS ITGA6 KRT14 KRT86 NIPAL4 BCR NDUFB11 WNK1 LAMC2 STAMBP TGM1 ABCA1 SOX18 FGFR2 FERMT1 KRT14 NTNG1 PRKAR1A MMP1 NOG EVC FZD6 LAMB3 PLCD1 TET2 TGM1 GJB2 RTEL1 HLA-C DSP IKBKG TERT DSP NFKB2 EDARADD