SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation D203E

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Carboxylesterase 1 Genetic Variation and Methylphenidate in ADHD

The study team will determine the association between d,l-methylphenidate (MPH) therapeutic outcomes in ADHD patients and genetic variants of CES1 and reveal key associations between CES1 genotypes and the PK and PD of MPH.

NCT03781752
Conditions
  1. ADHD
  2. Attention Deficit Hyperactivity Disorder
Interventions
  1. Drug: Methylphenidate
MeSH:Attention Deficit Disorder with Hyperactivity
HPO:Attention deficit hyperactivity disorder

In addition, the study team's in vitro studies have revealed that another common CES1 variant D203E (rs2307227) exhibited significantly impaired activity on MPH metabolism, although the effects on D203E on clinical response are in need of further elucidation. --- D203E ---

In addition, the study team's in vitro studies have revealed that another common CES1 variant D203E (rs2307227) exhibited significantly impaired activity on MPH metabolism, although the effects on D203E on clinical response are in need of further elucidation. --- D203E --- --- D203E ---

The study team's hypothesis is that the CES1 variants, such as the G143E and D203E, can significantly alter the expression and/or activity of CES1, thereby influencing the metabolism and disposition of MPH. --- G143E --- --- D203E ---

Primary Outcomes

Description: The maximum plasma concentration achieved after dosing.

Measure: Maximum methylphenidate plasma concentration (Cmax),

Time: up to 8 Hours

Secondary Outcomes

Description: The time after administration of a drug when the maximum plasma concentration is reached; when the rate of absorption equals the rate of elimination.

Measure: Time to maximum concentration (Tmax)

Time: up 8 hours

Description: Area under the plasma concentration-time curve from time zero to the last measurable concentration.

Measure: Area under the plasma concentration curve (AUClast)

Time: up to 8 hours

Description: Area under the plasma concentration-time curve from time zero to infinity.

Measure: Area under the plasma concentration curve (AUCinf)

Time: up to 8 hours


HPO Nodes


HP:0007018: Attention deficit hyperactivity disorder
Genes 387
TGIF1 SH2B1 EEF1A2 GNE TBL1X ALG13 HSPG2 NODAL GNE POLA1 AGTR2 ZNF711 GTF2IRD1 SLC9A7 NECAP1 PHF21A FRMPD4 CNKSR2 SATB2 KIF11 SHH GABRG2 ARVCF SLITRK1 SETD5 MED13 YY1 RREB1 GNB5 TRAPPC14 STXBP1 ARX AARS1 PIEZO2 FGF8 DMD RAB39B GAS1 TGFBR2 FOXH1 CLIP2 ELN GRIN2A FANCD2 MYT1L HIRA GP1BB SVBP ACTL6B ADNP DLL1 SEC24C SIX3 CDK8 TIMM8A GABRG2 ELN PIK3CA HCN1 PAH CLTC SATB2 TLK2 WAC PMS2 FOXH1 CLCN4 GABRA5 GABRG2 CDON TSC1 GDI1 SLC1A2 PTCHD1 GAS1 HDC GABRB2 NPAP1 KRAS JRK NTRK2 CDON CDK19 KMT2E IGF2 SHH DISP1 ASPM TANC2 STS ZIC2 ACTL6B SNORD115-1 LIG4 GALC MADD NF1 DISP1 FGD1 KCNB1 MKRN3-AS1 FOXH1 TSPAN7 YWHAG SEMA3E TDGF1 IKBKG DHTKD1 FAN1 TKT FTSJ1 MED13 GLI2 FGF8 ABCD1 YWHAG PPM1D CNKSR2 GRIA4 FGFR1 IGF1 ZNF81 TAF1 KMT2A PWRN1 IPW HOXA2 CHRNA7 FLI1 PAK3 SNRPN DISP1 DALRD3 TRIO STAG2 ARID2 KCNA2 SIX3 RAI1 SH2B1 MED12 NKAP MSH6 ZIC2 WDFY3 KIF14 CACNA1H GABRA2 MSH2 DHCR7 FGF8 SHH SYNGAP1 DYM RIC1 NOP56 FGFR3 NODAL AP3B2 DDX6 PTCH1 ZIC2 RAD21 NUS1 SOX5 KANSL1 DLL1 RERE SLC6A8 FGF12 DNM1 ODC1 KAT8 BCORL1 MAGEL2 ACSL4 PCNT TET3 STS CLTC CDON SPRED1 MID2 CDKN1C STAG2 PPP1R12A SLC13A5 FBXW11 PTCH1 GLI2 ANAPC1 PWAR1 WAC SCN8A SLC2A1 THRB CNKSR2 TSC2 GLUD1 MAPK1 CARS1 IFNG NIPBL USP9X MKRN3 PANK2 FGFR1 DLL1 NSUN2 RAI1 TCF20 OPHN1 PCGF2 DYRK1A RPS20 FMR1 MED12 CSGALNACT1 IL1RAPL1 APC2 ODC1 CACNA1A TBX1 NSD1 JMJD1C C12ORF4 TBX1 EPCAM MECP2 TBL2 SIM1 TBX1 WWOX SYNJ1 METTL5 DNAJC12 PRNP TUBB2B CSNK2A1 FOXP1 RFC2 TMCO1 GATA4 SNORD116-1 LIMK1 MED12 MYT1L CRBN SIX3 PTCHD1 ATP6V1A GLI2 SMPD1 ARV1 CRKL PMS1 SZT2 MCTP2 BPTF SIN3A SYP CDON ZMIZ1 TBX1 ZNF41 STEEP1 IQSEC2 CACNA1B CIC GABRB3 ACTL6A DEAF1 ZIC2 PSMD12 SCN8A MLH1 GABRA1 FOXH1 USP27X FGD1 TSC2 PHIP GRIN2D FGF8 SNRPN NDP NBN PRKCG TANC2 TGIF1 NLGN1 WAC UBE3A ZMIZ1 SMC1A HDAC4 TDGF1 TSC1 HMGA2 PTCH1 IQSEC1 GLI2 SEMA4A GAS1 PPP3CA GAS1 DOCK3 UFD1 TGIF1 SH3KBP1 PLAG1 GTF2I KDM3B GNAQ CYFIP2 KCNA2 KANSL1 GRIN2A PTCH1 NR2F1 TRAK1 UBA5 SETD5 TDGF1 RAI1 MED12L PARS2 TGIF1 BMPR1A CHD7 ARF1 UPF3B ALKBH8 SMC1A CDH2 NDN SETD2 UPF3B OCRL DHDDS HCFC1 SMC3 TDGF1 ZDHHC9 DLL1 TRMT1 SHH DPH1 SIX3 RERE TKT HDAC8 MLH3 HERC2 SRPX2 STAG2 DLG3 DRD5 MLXIPL MAP1B IQSEC2 BCR RSRC1 SETBP1 SPG7 SCN3A LHCGR BCORL1 NODAL BAZ1B DLL1 TRAPPC4 MED12 COMT USP7 DRD4 FLII NTNG1 ARHGEF6 DYNC1I2 NODAL RPS6KA3 AUTS2 RLIM TRIO PAH DISP1
Protein Mutations 2
D203E G143E