SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation D203E

Developed by Shray Alag, 2020.
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 377
PRNP ZIC2 MLH1 LIG4 NTNG1 KCNA2 TRIO SETBP1 DYNC1I2 GNAQ MID2 NODAL DYRK1A HDC SH2B1 ZNF41 CDH2 RAB39B LIMK1 CIC CNKSR2 SCN8A LHCGR USP27X EEF1A2 NR2F1 CSGALNACT1 SIX3 ACTL6B PAK3 SLITRK1 GP1BB GATA4 MLXIPL IQSEC1 ADNP C12ORF4 CDK19 TKT SEC24C DHTKD1 SETD2 SYNJ1 RREB1 BMPR1A ARVCF YWHAG DMD PMS1 RLIM IQSEC2 CLIP2 SIM1 TBX1 WWOX PIEZO2 SETD5 SYNGAP1 PPP3CA DLL1 DISP1 FTSJ1 HCFC1 GAS1 ARF1 FOXH1 ODC1 ELN IKBKG SPG7 BAZ1B OCRL ACTL6A TBC1D24 METTL5 NF1 TCF20 JMJD1C STAG2 UPF3B UFD1 MED13 ZMIZ1 FBXW11 CHRNA7 RFC2 SIX3 TSC1 DLL1 AP3B2 SIX3 TDGF1 THRB GTF2I CACNA1A MLH3 NECAP1 GNB5 PRKCG NSD1 GABRB2 OPHN1 SATB2 USP7 FAN1 FGF12 STS CXORF56 SEMA3E MSH2 FOXH1 SETD5 GABRA2 ACTL6B SLC2A1 ZNF711 CDON CDON TBX1 HERC2 MED12 DLG3 NLGN1 TRAK1 GRIA4 USP9X TLK2 GAS1 RPS6KA3 SCN3A CDK8 KIF11 TIMM8A PARS2 PPM1D DRD4 PWAR1 JRK MED12 MED12L MYT1L RAI1 TKT ZIC2 MYT1L ARID2 EPCAM CRBN CACNA1H CYFIP2 NODAL NBN SMPD1 GABRG2 CACNA1B FOXH1 CLCN4 KMT2A SHH DISP1 RAD21 ABCD1 UBA5 STS DDX6 MCTP2 CSNK2A1 PANK2 TRIO PPP1R12A FGF8 MAGEL2 GLI2 PTCHD1 DYM NPAP1 PHIP TANC2 DISP1 TGIF1 WAC PSMD12 FGD1 SLC13A5 SLC6A8 SNORD116-1 SRPX2 FGF8 ARHGEF6 UBE3A MAP1B GABRA5 TDGF1 HDAC4 TGFBR2 PTCH1 BCR SH3KBP1 GDI1 WDFY3 TDGF1 TSC2 GLI2 FGF8 YY1 SHH CARS1 TUBB2B IFNG GLI2 FGFR1 SYP RPS20 DHDDS GAS1 BCORL1 BPTF RERE NIPBL MKRN3 GNE COMT SNORD115-1 TBX1 TGIF1 SPRED1 GLUD1 NDP WAC GTF2IRD1 SCN8A TSC1 TSPAN7 FMR1 CDON WAC GRIN2D NUS1 KCNA2 STAG2 DEAF1 PAH DNM1 FLI1 GABRG2 PTCH1 FGD1 SIX3 DALRD3 RAI1 GNE TMCO1 YWHAG SMC3 FOXH1 PIK3CA ZDHHC9 NKAP TAF1 RAI1 FLII CNKSR2 HOXA2 TGIF1 RERE SEMA4A ZIC2 MED13 HDAC8 KMT2E AGTR2 IPW RIC1 APC2 AUTS2 PAH ASPM GABRG2 SZT2 KRAS ALG13 DRD5 DOCK3 FGF8 SHH ARV1 TDGF1 STXBP1 UPF3B GALC DLL1 STAG2 BCORL1 PCGF2 TET3 SHH NODAL SLC1A2 TRMT1 NOP56 TGIF1 MED12 PTCH1 ZIC2 SMC1A CLTC HSPG2 MSH6 PWRN1 IGF1 CPLX1 FOXP1 GRIN2A FGFR1 GAS1 TBX1 SIN3A IL1RAPL1 NTRK2 PCNT KCNB1 ELN ALKBH8 TSC2 SLC9A7 POLA1 NDN MECP2 MAPK1 CDON PTCHD1 SOX5 ATP6V1A KDM3B NODAL HCN1 KIF14 TRAPPC4 GRIN2A KAT8 TBL2 DLL1 PTCH1 MED12 DNAJC12 HIRA GLI2 MKRN3-AS1 IQSEC2 SVBP ZNF81 NSUN2 AARS1 GABRB3 RSRC1 PMS2 DLL1 FRMPD4 GABRA1 CHD7 FGFR3 CNKSR2 CRKL ARX TANC2 DHCR7 ZMIZ1 TRAPPC14 TBL1X ACSL4 CLTC SNRPN PHF21A DISP1 DPH1 SH2B1 SMC1A
Protein Mutations 2
D203E G143E