SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT03781752

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

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
MeSH: Attention Deficit Disorder with Hyperactivity
HPO: Attention deficit hyperactivity disorder

1 Interventions

Name: Methylphenidate

Description: study to determine dose

Type: Drug

Methylphenidate


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

Purpose: Basic Science

Single Group Assignment


There are 2 SNPs

SNPs


1 rs2307227

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.


2 rs71647871

The first clinically significant CES1 variant G143E (rs71647871), discovered in the study team's lab during the course of a healthy volunteer MPH PK study, led to gross impairments in MPH metabolism.



HPO Nodes


HPO:
Attention deficit hyperactivity disorder
Genes 193
GABRB2 MKRN3 GABRB3 SNORD115-1 SOX5 UBA5 GABRG2 ATP6V1A AARS DYM WWOX HDAC4 SPG7 TRIO SMC1A IQSEC2 HDAC8 CPLX1 GATA4 IPW PWRN1 DHDDS NBN RPS20 TSC1 TSC2 NDN NDP UPF3B RREB1 BCR NSUN2 SLITRK1 CIC CHRNA7 SNORD116-1 TBC1D24 WAC HIRA SYNGAP1 TIMM8A BMPR1A PANK2 KCNA2 STXBP1 KCNB1 SYNJ1 UBE3A PIK3CA DHCR7 SCN3A UFD1 GLUD1 CLTC SCN8A VPS13A NPAP1 ASPM MLH1 FGD1 KIF14 KMT2A DNAJC12 CACNA1H FGF12 FGFR3 ABCD1 GNAQ TAF1 PWAR1 SEMA4A HERC2 DNM1 TMCO1 DHTKD1 NIPBL PHIP MED12 TBX1 KIF11 GP1BB RAD21 COL2A1 PMS1 TLK2 CACNA1A KRAS FLI1 FLII HSPG2 DPP6 C12ORF4 SATB2 PMS2 COL11A2 MAGEL2 DEAF1 FMR1 COMT NOP56 ARV1 GNE CLIP2 SZT2 PPM1D HCN1 NTRK2 IKBKG BAZ1B GRIA4 CNKSR2 MSH2 CHD7 SIN3A GRIN2A OCRL GRIN2D SIM1 RFC2 GTF2IRD1 SLC1A2 YWHAG JMJD1C SLC2A1 SH2B1 ARF1 CRKL CYFIP2 OPHN1 NECAP1 TRAK1 MKRN3-AS1 EEF1A2 FAN1 LHCGR SLC6A8 TGFBR2 MSH6 MLXIPL LIG4 LIMK1 MLH3 IGF1 PIEZO2 GTF2I PPP3CA STS THRB SEC24C COX1 COX2 COX3 ARVCF SMC3 SETD5 ZDHHC9 TKT CSNK2A1 ARID2 JRK NUS1 ND1 SETBP1 AP3B2 GNB5 ND4 ND5 ND6 PAH SLC13A5 SPRED1 TRNF PRKCG TRNH ELN TRNL1 MAPK1 TRNQ TRNS1 MAP11 TRNS2 TRNW EPCAM MCTP2 SNRPN STAG2 TBL2 CRBN PRNP RAI1 GABRA1 SEMA3E PCNT