SNPMiner Trials by Shray Alag


SNPMiner Trials: Mutation Report


Report for Mutation C1236T

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

There are 6 clinical trials

Clinical Trials


1 Role of Genetic Factors in the Response to Digoxin in the Acute Treatment of Atrial Fibrillation

This study tested the hypothesis that response to digoxin is modulated by single Nucleotid Polymorphism (SNP): - Multi Drug Resistance (MDR1) gene haplotypes and Solute carrier organic anion transporter family member 1B3 (SLCO1B3) gene Polymorphism and their role in the response to treatement. - Aldosterone synthase (CYP11B2) gene and sodium channel, voltage-gated, type V alpha subunit gene (SCN5A) correlated with atrial fibrillation and their roles in response to digoxin.

NCT02167165 Atrial Fibrillation Drug: Digoxin
MeSH: Atrial Fibrillation
HPO: Atrial fibrillation Paroxysmal atrial fibrillation

The aim of the current study is to analyze the ABCB1: C1236T (Gly412Gly), G2677>T⁄A (Ala893Ser/ Thr) and C3435T (Il1145Ile) polymorphisms. --- C1236T ---

Primary Outcomes

Description: In the current study we aimed at outlining the different MDR-1, SLCO1B3, CYP11B12 and SCN5A genotypes in a sample of Tunisian patients, suffering from AF and taking digoxin, to assess the role of SNPs in affecting serum digoxin concentrations, and studying the consequences on patients' clinical outcome. Patients will be monitored for 24 hours in an intensive care unit;

Measure: Correlation between the response to digoxin and the genotypes of the patients

Time: 24 hours

Secondary Outcomes

Description: Rhythm control: rate and delay of return to sinusal rhythm. Rate control: reduction of heart rate : HR <100 bpm or 20% reduction from baseline

Measure: Rhythm and Rate control

Time: 24 hours

Other Outcomes

Measure: Arterial hypotension Bradycardia (HR <45 bpm) Other (chest pain, allergic reaction……)

Time: 24 hours

2 Investigation Drug-drug Interaction Between Dabigatran and Clarithromycin

Dabigatran (Pradaxa ®) is a new oral anticoagulant. It is used to prevent venous thromboembolism in orthopedic surgery and has recently demonstrated efficacy and safety at least as good as anticoagulants in the prevention of thromboembolism in atrial fibrillation and the treatment of venous thromboembolism. It is administered with fixed dose and does not require laboratory monitoring because of the low inter and intra individual pharmacokinetic (PK) and pharmacodynamics (PD) of dabigatran. However, the bioavailability of dabigatran is very low (6.5%) and is controlled by an efflux protein, P-GP. This molecule has a genetic polymorphism. The inhibition of this protein can cause a significant increase in intestinal absorption of dabigatran and expose patients to a risk of bleeding by overdose. Two major drug interactions have been identified : quinidine (cons-indication) and amiodarone (precautions). It is likely that other interactions exist and can be clinically significant in patients not selected such as testing. The development of tools to study the influence of P-GP on the PK and PD of dabigatran is therefore interesting. As the P-GP has a genetic polymorphism, the study of the latter is an important element in the detection of drug interactions. In this sense, clarithromycin, a potent inhibitor of P-GP is a good model to evaluate the primary mechanism of drug interaction of dabigatran and optimize the experimental design of studies to be conducted.

NCT01385683 Healthy Drug: Dabigatran then dabigatran and clarithromycin Drug: Clarithromycin and dabigatran then dabigatran

Genotyping of MDR-1 (gene for P-GP): C3435T SNP of exon 26, SNP G2677T / A of exon 21 and C1236T SNP of exon 12. Inclusion Criteria: - affiliated or beneficiary of a social security category - having signed the inform consent form - having signed the genetic consent form - weight between 60 and 85 kg - normal clinical exam - normal biological exam Exclusion Criteria: - contra-indication to dabigatran - contra-indication to clarithromycin - previous history of psychiatric disease, or antidepressant treatment, or convulsion, or hemorrhagic disease - smoker - peptic ulcer - severe liver disease - severe kidney failure - previous surgery within one month Inclusion Criteria: - affiliated or beneficiary of a social security category - having signed the inform consent form - having signed the genetic consent form - weight between 60 and 85 kg - normal clinical exam - normal biological exam Exclusion Criteria: - contra-indication to dabigatran - contra-indication to clarithromycin - previous history of psychiatric disease, or antidepressant treatment, or convulsion, or hemorrhagic disease - smoker - peptic ulcer - severe liver disease - severe kidney failure - previous surgery within one month Healthy null --- C3435T --- --- G2677T --- --- C1236T ---

Primary Outcomes

Description: Calculating the area under the curve (AUC) from plasma concentrations of dabigatran versus time by the trapezoidal method. Determination of maximum concentration (Cmax)

Measure: Determination of dabigatran and its metabolites in plasma by LC/MS-MS method

Time: At Day 4 and Day 11

Secondary Outcomes

Description: Measures activated Partial Thromboplastin Time (aPTT)and measures ECarin Time (ECT),

Measure: Pharmacodynamic parameters

Time: At Day 4 and Day 11

Description: Genotyping of MDR-1 (gene for P-GP): C3435T SNP of exon 26, SNP G2677T / A of exon 21 and C1236T SNP of exon 12

Measure: Genotyping

Time: At Day 1

3 Weekly Administration of (bi-)Daily Oral Docetaxel in Combination With Ritonavir

Oral administration has many advantages above intravenously administrated drugs for patients. Up to now, oral administration of docetaxel as single agent has not been feasible due to low and variable bioavailability. This low systematic exposure to docetaxel can effectively be increased after co-administration of ritonavir. The department of pharmacy of the Slotervaart Hospital and Netherlands Cancer Institute developed a solid oral dosage form for docetaxel, ModraDoc001 10 mg capsules. Two other novel dosage forms of docetaxel with improved pharmaceutical characteristics, have been developed: ModraDoc003 10 mg tablets and ModraDoc004 10/50 mg tablets. The systemic exposure after administration of those forms is now being investigated.

NCT01173913 Cancer Drug: ModraDoc001 10mg capsules Drug: ModraDoc003 10mg tablets and ModraDoc004 10/50 mg Drug: ModraDoc006 10 mg tablet

To establish the effect of functional genetic polymorphisms, C1236T (for MDR1) and CYP3A4*1B, on pharmacokinetics of orally administered docetaxel.. Inclusion Criteria: 1. Histological or cytological proof of cancer 2. Patients for whom no standard therapy of proven benefit exist 3. Patients who might benefit from treatment with docetaxel, e.g. --- C1236T ---

Another part of this study is the screening for 2 different polymorphism, C1236T (for MDR1)and CYP3A4*1B. --- C1236T ---

Primary Outcomes

Description: The maximal tolerated dose (defined as the highest dose resulting in no more that 1/6 probability of causing a dose limiting toxicities defined in the protocol) of bi-daily ModraDoc001 10mg capsules with ritonavir will be assessed in Arm A. Weekly safety assessments for Arm A and Arm B: signs and symptoms/adverse events, physical examination, clinical laboratory tests (hematology, clinical chemistry and urinalysis), 12-lead ECG monitoring (Day 0, End of Th). The incidence of serious AEs (SAEs) and AE related to oral docetaxel and/or to ritonavir will be determined.

Measure: Number and percentage of Participants with Adverse Events

Time: AE will be collected during the study treatment and 30 days after discontinuation of the study treatment due to disease progression or unacceptable treatment related toxicity

Secondary Outcomes

Description: The PK of bi-daily ModraDoc001 10mg, ModraDoc003 10mg tablets both in combination with ritonavir capsules and ModraDoc004 10/50mg tablets will be determed using non-compartmental methods and compartmental methods using NONMEM. Correlation between PK data and toxicity are subsequently analyzed for their significance.

Measure: Pharmacokinetics assessments

Time: Day 1 of week: 1, 2 and 3

Description: Weekly safety assessments for Arm B (administration of ModraDoc003 10mg capsules and ritonavir and ModraDoc004 10/50 mg tablets) are: signs and symptoms/adverse events, physical examination, clinical laboratory tests (hematology, clinical chemistry and urinalysis), 12-lead ECG monitoring (Day 0, End of Th). The incidence of serious AEs (SAEs) and AE related to oral docetaxel and/or to ritonavir will be determined.

Measure: Number and percentage of Participants with Adverse Events

Time: during the study treatment and 30 days after the study discontinuation

Description: Tumor measurement according to RECIST

Measure: Radiological antitumor activity

Time: at least every six weeks

Description: To establish the effect of functional genetic polymorphisms, C1236T (for MDR1) and CYP3A4*1B, on pharmacokinetics of orally administered docetaxel.

Measure: Pharmacogenetic sampling

Time: Day 1 - predose

4 An Open Non Randomized Comparative Study Exploring Drug Interaction Between Colchicine and Calcineurin Inhibitors in 2 Groups (Ciclosporin Group and Tacrolimus Group) of Renal Graft Recipients

Ciclosporin inhibits P-glycoprotein should increase colchicine bioavailability whereas tacrolimus should not influence colchicine disposition. This is a prospective, controlled, open labeled study performed in renal graft recipients comparing colchicine single dose (1mg) pharmacokinetics in 14 patients treated with tacrolimus and 14 patients treated with cyclosporin.

NCT01160276 Renal Replacement Therapies Drug: cyclosporine+colchicine Drug: tacrolimus

ABCB1 Haplotypes composed of 3 SNPs: C3435T, G2677T / A and C1236T.. null. --- C3435T --- --- G2677T --- --- C1236T ---

Primary Outcomes

Measure: Area under the curve of plasma concentration of colchicine over time 0-∞

Time: 4 weeks

Secondary Outcomes

Measure: Half-life of colchicine (T1/2).

Time: 4 weeks

Measure: AUC0-3h colchicine to focus the analysis on the absorption phase (argument in favor of an interaction-dependent P-gp)

Time: 4 weeks

Measure: Cmax observed colchicine.

Time: 4 weeks

Measure: Residual tacrolimus or cyclosporine concentrations

Time: 4 weeks

Measure: ABCB1 genotype at position 3435 (rs 1045642) or 3435 cc, 3435TT, heterozygotes could not be included in the tacrolimus group.

Time: 4 weeks

Measure: ABCB1 Haplotypes composed of 3 SNPs: C3435T, G2677T / A and C1236T.

Time: 4 weeks

Measure: CYP3A5 Genotype: search for the allele * 1 (rs 776746): 3 possible genotypes CYP3A5 * 3 / * 3 - CYP3A5 * 3 / * 1 - CYP3A5 * 1 / * 1.

Time: 4 weeks

Measure: GFR calculated by MDRD formula.

Time: 4 weeks

Measure: BMI

Time: 4 weeks

Measure: Drug related (azathioprine, mycophenolic acid, diuretics, ACE inhibitors, ARAII)

Time: 4 weeks

5 Use of a Simplified Nomogram and Pharmacogenetics to Individualize Digoxin Dosing in Heart Failure Patients vs. Standard Care

Dosing methods for digoxin, a drug used to treat heart failure, have not been updated in decades despite evidence in recent years suggesting that blood levels of digoxin achieved with traditional dosing practices may increase the risk of adverse events. We developed a simple dosing tool that targets lower blood levels of digoxin that have been associated with improved outcomes compared to higher blood levels. The aim of this study is to determine if this simplified dosing tool is more effective than standard digoxin dosing practices at achieving lower blood levels and also to determine if digoxin dosing may be further optimized by incorporating patients' genetic information believed to influence the drug's properties.

NCT01005602 Heart Failure Other: Digoxin Dosing per Nomogram Drug: Digoxin
MeSH: Heart Failure
HPO: Congestive heart failure Left ventricular dysfunction Right ventricular failure

Serum Digoxin Concentration by ABCB1 Single Nucleotide Polymorphism (SNP) C1236T. --- C1236T ---

Primary Outcomes

Measure: Percent of Patients Achieving a Desired Steady-state Serum Digoxin Concentration Between 0.5 - 0.9ng/ml

Time: Steady-state (2 - 4 weeks after initiation)

Secondary Outcomes

Measure: Mean Serum Digoxin Concentration

Time: Steady-state (2 - 4 weeks after initiation)

Measure: Serum Digoxin Concentration < 1.0 ng/ml

Time: Steady-state (2 - 4 weeks after initiation)

Description: 55 patients in the Digoxin Dosing per Nomogram group consented to the Pharmacogenetic substudy and provided blood samples to perform pharmacogenetic analyses. We compared serum digoxin concentrations by ABCB1 genotype.

Measure: Serum Digoxin Concentration by ABCB1 Single Nucleotide Polymorphism (SNP) C1236T

Time: Steady-state (2 - 4 weeks after initiation)

Description: Serum digoxin concentration by genotypes for the ABCB1 SNP C3435T

Measure: Serum Digoxin Concentration by ABCB1 SNP C3435T

Time: Steady-state (2 - 4 weeks after initiation)

Description: Serum digoxin concentration by ABCB1 SNP genotypes

Measure: Serum Digoxin Concentration by ABCB1 SNP G2677T/A

Time: Steady-state (2 - 4 weeks after initiation)

6 Utilizing Pharmacogenetics to Predict Drug Interactions in Kidney Transplant Recipients

Solid organ transplant recipients would greatly benefit from pharmacogenetic evaluation since immunosuppressive drug regimens consist of multiple medications with narrow therapeutic ranges and toxic adverse event profiles. Tacrolimus is a potent immunosuppressive agent utilized for rejection prophylaxis. Intensive pharmacokinetic monitoring must be performed following organ transplantation to ensure therapeutic drug concentrations due to its highly variable pharmacokinetics profile and narrow therapeutic index. Tacrolimus is a substrate for CYP450 3A and for the membrane transporter p-glycoprotein (Pgp). Polymorphisms in the gene encoding for CYP3A5 have been extensively studied and have been found to influence the dosing of tacrolimus. The effect of ABCB1 gene polymorphisms (which encodes for Pgp) upon tacrolimus pharmacokinetics has been more difficult to establish. This study will determine if haplotypes derived from three frequent polymorphisms in the ABCB1 gene (C1236T, G2677T, C3435T) can predict the degree of drug interaction between tacrolimus (CYP3A5/Pgp substrate) and ketoconazole (CYP3A5/Pgp inhibitor) in patients who are CYP3A5 nonexpressors. This prospective pharmacokinetic and pharmacogenomic study will enroll 20 stable renal transplant recipients with the CYP3A5 *3/*3 genotype and grouped by ABCB1 haplotype (CGC vs TTT). Pharmacokinetics of tacrolimus will be assessed on 2 occasions with and without ketoconazole coadministration separated by 1 week. The order of study occasions will be randomized in a crossover design. The results of this study may identify a genomic marker for predicting drug-drug interactions. Knowing this information a priori will aid clinicians in modifying drug dosing and alleviate patients of the burden of significant drug toxicities.

NCT01288521 Kidney Transplantation Drug: Tacrolimus + Ketoconazole, Then Tacrolimus alone Drug: Tacrolimus alone, Then Tacrolimus + Ketoconazole

This study will determine if haplotypes derived from three frequent polymorphisms in the ABCB1 gene (C1236T, G2677T, C3435T) can predict the degree of drug interaction between tacrolimus (CYP3A5/Pgp substrate) and ketoconazole (CYP3A5/Pgp inhibitor) in patients who are CYP3A5 nonexpressors. --- C1236T ---

Primary Outcomes

Description: Tac bioavailability alone vs. Tac bioavailability with Keto. To determine F we took the ratio of area under the curve of the oral dose divided by the area under the curve of the IV dose. F was determined by fitting a model that considered the plasma concentration of tac with IV vs. oral dosing.

Measure: Tacrolimus Bioavailability (F)

Time: baseline and 2 weeks


HPO Nodes


Congestive heart failure
Genes 180
HJV TPM1 VHL HFE MYD88 ATP6V1A CACNA1S NDUFB11 FLNA SCO2 TCF4 FLNC MYH6 PNPLA2 MYH7 FBLN5 EYA4 MYL3 PSEN1 PSEN2 RASA1 CLIP2 DSP GPR35 DNAJC19 COG7 SGCD DTNA ENPP1 ACAD9 FOS HLA-DRB1 MAX GNPTAB KIF1B EFEMP2 NDUFAF3 BAG3 AGPAT2 WRN TUBB SLC19A2 PSMB8 IKBKG GBA AGGF1 ACTC1 BAZ1B PEX7 CDH23 CP CASR IRF5 RPS19 TSC1 TSC2 TMEM43 SLC25A26 CAV1 FXN RET PPARG ACVRL1 RFC2 IDS MDH2 PTEN GTF2IRD1 NSMCE2 GDF2 TMEM127 SELENON TTN HNRNPA1 NDUFB8 TF MECP2 TRIP4 HNRNPA2B1 ADCY5 ABCC6 ELAC2 RBM20 NDUFS2 STAT1 RYR1 EPG5 SNAP29 SLC25A3 MST1 SLC2A10 SLC17A5 IFIH1 GJA1 DES FGF23 TNNI3K JUP LIMK1 PHYH LDB3 FBN1 GTF2I GLA NDUFAF1 TRNC GLB1 LMNA COX1 ALMS1 COX2 COX3 SDHAF2 CYTB CLIC2 ATXN7 KCNJ5 SURF1 RAB3GAP2 ND1 MYPN TMEM70 SLC22A5 SCN4A ND4 PPA2 ND5 ND6 FGD1 PRKAR1A GATAD1 TRNE TRNF GNA11 CCN2 CCR6 CAVIN1 BSCL2 TRNH FGFR3 ELN HADHA TRNK TRNL1 HADHB HAMP DMD TRNQ PRKAG2 TRNS1 FH HBA1 TRNS2 GTPBP3 HBA2 TRNV TNNI3 TRNW TNNT2 ENG MAPRE2 PLN PLOD1 PRDM16 TRIM37 TBL2 ATP5F1A SDHA TAZ SDHB VCL ADAMTSL2 SDHC VCP SDHD CEP19 SMAD4 COL1A1 COL1A2 TPI1
Paroxysmal atrial fibrillation
Genes 12
CSRP3 KCNJ5 SCN1B SCN2B KCNE2 MYL4 SCN5A ABCC9 KCNA5 PRKAG2 TBX5 KCNJ2