SNPMiner Trials by Shray Alag


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Report for Mutation S112A

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 Influence of the OATP1B1 and OATP1B3 Genotype on the Hepatic Uptake of Primovist® in Healthy Volunteers and in Patients With Liver Disease

The objective of the study is to assess the hepatic uptake of Primovist® after intravenous administration of 25 µmol/kg body weight in 56 healthy volunteers and in 60 patients with a liver disease in dependence on the OATP1B1- and OATP1B3-genotype.

NCT01420211 Pharmacokinetics MRI Liver Drug Transporter Gd-EOB-DTPA Drug: Primovist® 0,25 mmol/ml solution for injection Device: MRI

At least two of them were described to be of functional relevance: 334T>G (Ser112Ala) and 699G>A (met233Ile). --- Ser112Ala ---

Primary Outcomes

Description: AUC0-t is calculated by the trapezoidal formula. AUC0-t is assessed up to the last sampling time above the limit of quantitation and is extrapolated to infinity using standard techniques. Cmax and Tmax will be obtained directly from the measured concentration-time curves. t1/2 will be evaluated from the terminal slope by log-linear regression analysis.

Measure: Pharmacokinetic characteristics

Time: before (serum blank) and 6, 11, 21, 31, 45, 65, 95, 125 min and 3, 4, 6, 8, 12, 24 and 48 h after drug administration

Description: Dynamic enhanced MR examination with 0.1ml/kg/KG (flow:2ml/s) Gd-EOB-DTPA and breath-hold gradient-echo T1-weighted VIBE images (Volumen interpolated breathhold examination) will be acquired on the 1.5T MRI (Siemens Symphony maestro class). Time of imaging can be seen on the time schedule. The SNR and the time to maximum enhancement will be calculated for each organ.

Measure: signal intensity of liver

Time: before and 0.25, 1, 2, 3, 4, 5, 7, 8, 9, 10, 20, 30, 40, 50, 60, 90 and 120 min after drug administration

Secondary Outcomes

Description: Dynamic enhanced MR examination with 0.1ml/kg/KG (flow:2ml/s) Gd-EOB-DTPA and breath-hold gradient-echo T1-weighted VIBE images (Volumen interpolated breathhold examination) will be acquired on the 1.5T MRI (Siemens Symphony maestro class). Time of imaging can be seen on the time schedule. The SNR and the time to maximum enhancement will be calculated for each organ.

Measure: signal intensity of gallbladder

Time: before and 0.25, 1, 2, 3, 4, 5, 7, 8, 9, 10, 20, 30, 40, 50, 60, 90 and 120 min after drug administration

Description: Dynamic enhanced MR examination with 0.1ml/kg/KG (flow:2ml/s) Gd-EOB-DTPA and breath-hold gradient-echo T1-weighted VIBE images (Volumen interpolated breathhold examination) will be acquired on the 1.5T MRI (Siemens Symphony maestro class). Time of imaging can be seen on the time schedule. The SNR and the time to maximum enhancement will be calculated for each organ.

Measure: signal intensity of background noise

Time: before and 0.25, 1, 2, 3, 4, 5, 7, 8, 9, 10, 20, 30, 40, 50, 60, 90 and 120 min after drug administration

2 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 Injection
MeSH:Atrial Fibrillation
HPO:Atrial fibrillation Paroxysmal atrial fibrillation

In this study we will also investigate the relationship between two deletion polymorphisms (from -28 to -11 deletion) and (from-7 to -4 deletion), T334G (Ser112Ala) and G699A (Met233Ile) SNPs in the SLCO1B3gene and their role in response to digoxin. --- T334G --- --- Ser112Ala ---

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

Description: hypotension during hospitalisation, bradycardia, chest pain, allergic reaction

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

Time: 24 hours


HPO Nodes