SNPMiner Trials by Shray Alag

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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 ADHD Attention Deficit Hyperactivity Disorder 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 272
PPM1D DRD4 DNM1 DHCR7 SLC6A8 LIMK1 PTCHD1 CLCN4 TSC2 SCN3A STS DHTKD1 STAG2 SLC13A5 PMS2 SIM1 ACTL6B LHCGR FTSJ1 EPCAM HOXA2 KIF11 ELN CNKSR2 UPF3B GABRG2 UPF3B DRD5 SLC1A2 PWAR1 CLTC SETBP1 ATP6V1A NIPBL GNAQ GNE RAI1 RAB39B HCFC1 TSC1 SCN8A FGFR3 SCN8A ARHGEF6 TBX1 DYM HSPG2 SYNJ1 MED12 CACNA1H WWOX CHRNA7 MLH3 GNB5 TRAK1 CXORF56 MSH2 GALC RREB1 SEMA3E CPLX1 ADNP TSC2 NTRK2 NPAP1 CHD7 ARX CRBN ABCD1 BCORL1 SPRED1 TMCO1 IL1RAPL1 DYNC1I2 SMC3 GABRA2 RAI1 SH3KBP1 FGD1 NKAP PIEZO2 YY1 FLI1 RSRC1 GABRG2 MLXIPL CACNA1B TGFBR2 CNKSR2 C12ORF4 SMPD1 YWHAG RAD21 MCTP2 IGF1 CNKSR2 ARVCF RPS6KA3 MID2 RERE NDN IKBKG MAPK1 STS GLUD1 IQSEC2 SEMA4A ASPM HDC BAZ1B MED13 TAF1 WAC CYFIP2 UBE3A TBC1D24 NDP TSPAN7 SIN3A ALKBH8 MECP2 OCRL HERC2 ZDHHC9 TLK2 DPP6 AP3B2 EEF1A2 MAGEL2 GP1BB KCNB1 SMC1A GTF2IRD1 PIK3CA UFD1 RIC1 STXBP1 FAN1 SNORD115-1 NUS1 CACNA1A MKRN3-AS1 PTCHD1 ACSL4 SH2B1 GRIN2A TET3 RFC2 GNE GABRG2 PCNT GRIN2D LIG4 PANK2 CDK8 GTF2I PRKCG IFNG BMPR1A FOXP1 USP27X CLTC KIF14 DEAF1 SRPX2 SPG7 SIN3A SNRPN CLIP2 CRKL COMT NECAP1 GABRA1 GRIN2A SZT2 OPHN1 SH2B1 JMJD1C AARS1 FMR1 UBA5 SOX5 VPS13A NOP56 ARV1 PCGF2 ALG13 AGTR2 AUTS2 HIRA BCR IQSEC2 YWHAG PAK3 GRIA4 TBX1 NSUN2 MSH6 PMS1 MKRN3 JRK TBX1 GABRB3 PARS2 ZNF41 RERE MLH1 DPH1 FLII SETD5 CIC FRMPD4 KRAS KCNA2 TKT ZNF711 TRIO SNORD116-1 ELN PPP3CA MED12 DLG3 FGD1 GABRB2 GATA4 SYP TSC1 TRIO TBL2 CSNK2A1 GDI1 DMD SETD5 SLC9A7 PHIP TBX1 POLA1 PWRN1 MED12 RPS20 USP7 KMT2A TUBB2B MAP11 SATB2 FGF12 DNAJC12 DHDDS HDAC4 TIMM8A SEC24C GABRA5 PAH PRNP THRB IPW TKT ARF1 USP9X RAI1 KCNA2 NBN HCN1 SLC2A1 NR2F1 SYNGAP1 MED12 HDAC8 SLITRK1 ARID2 ZNF81 PAH
Protein Mutations 2
D203E G143E
SNP 2
rs2307227 rs71647871