SNPMiner Trials (Home Page)
Report for Mutation Q141K
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There are 2 clinical trials
Clinical Trials
1 The Effects of BCRP Q141K on Allopurinol Pharmacokinetics and Dynamics
Subjects will undergo a placebo and allopurinol phase to better understand the effects of the reduced function BCRP Q141K variant on allopurinol pharmacokinetics and pharmacodynamics.
NCT02956278 Chronic Gout Hyperuricemia Drug: Allopurinol Other: Placebo MeSH:Hyperuricemia
HPO:Hyperuricemia
The Effects of BCRP Q141K on Allopurinol Pharmacokinetics and Dynamics. --- Q141K ---
The Effects of BCRP Q141K on Allopurinol Pharmacokinetics and Dynamics Subjects will undergo a placebo and allopurinol phase to better understand the effects of the reduced function BCRP Q141K variant on allopurinol pharmacokinetics and pharmacodynamics. --- Q141K ---
The Effects of BCRP Q141K on Allopurinol Pharmacokinetics and Dynamics Subjects will undergo a placebo and allopurinol phase to better understand the effects of the reduced function BCRP Q141K variant on allopurinol pharmacokinetics and pharmacodynamics. --- Q141K --- --- Q141K ---
Primary Outcomes
Description: Renal clearance as defined by amount excreted in 24 hours/AUC from 0-24 hours
Measure: Oxypurinol Renal Clearance Time: 24 hours (Urine collected 0-4 hrs,4-8 hrs,8-10 hrs,10-24 hrs post-dose)Description: Maximum percent change in uric acid after a single dose of allopurinol
Measure: Percent Change Uric Acid Time: 24 hoursSecondary Outcomes
Description: Area under the concentration time curve from 0-24 hours following a single dose of allopurinol (i.e. Day 1 of both protocols)
Measure: Oxypurinol AUC Time: 24 hours (Collections at 0, 0.5, 1, 1.5, 2, 3, 4, 5, 6, 8, 10, 24 hours post-dose)2 Federal Cardiomonitoring System. Determination of the Efficiency of a Single-lead ECG Recorded With CardioQVARK Cardiac Monitor in Order to Detect Atrial Fibrillation in Primary Health Centers.
This interventional prospective multicenter nonrandomized clinical and epidemiological study is the first Russian study aimed at evaluating the effectiveness of a single-lead electrocardiography device (CardioQVARK) in screening for atrial fibrillation in primary health care.
NCT04204330 Atrial Fibrillation Device: CardioQvark cardiac monitor and software, single-lead ECG MeSH:Atrial Fibrillation
HPO:Atrial fibrillation Paroxysmal atrial fibrillation
For new oral anticoagulants - rs2244613 of the gene CES1, rs1045642 (C3435T), rs1128503 (C1236T), rs2032582 (G2677T / А) of the gene ABCB1, rs2231142 (С421А, Q141K) of the gene ABCG2, rs776746 (A6986G * 399 CYP3 CYP3) CYP3A4.. Inclusion Criteria: Men and women aged 18 to 96 years who have one or more of the following risk factors: - hypertonic disease - history of ischemic stroke or transient ischemic attacks - type 1 and type 2 diabetes - 1-3 degrees obesity - heart failure or the presence of a clinic to reduce exercise tolerance associated with shortness of breath - coronary heart disease or the presence of symptoms of chest pain, in the absence of an established diagnosis of coronary heart disease - the presence of peripheral arterial atherosclerosis - the presence of a clinic of interruptions in the work of the heart (bouts of rapid, irregular heartbeats, pauses in work of heart) Non-inclusion criteria: - Acute coronary syndrome - Acute ischemic or hemorrhagic stroke - Acute psychosis - The presence of severe concomitant diseases with an expected life expectancy of less than 2 years Exclusion Criteria: Refusal of further participation in the study Inclusion Criteria: Men and women aged 18 to 96 years who have one or more of the following risk factors: - hypertonic disease - history of ischemic stroke or transient ischemic attacks - type 1 and type 2 diabetes - 1-3 degrees obesity - heart failure or the presence of a clinic to reduce exercise tolerance associated with shortness of breath - coronary heart disease or the presence of symptoms of chest pain, in the absence of an established diagnosis of coronary heart disease - the presence of peripheral arterial atherosclerosis - the presence of a clinic of interruptions in the work of the heart (bouts of rapid, irregular heartbeats, pauses in work of heart) Non-inclusion criteria: - Acute coronary syndrome - Acute ischemic or hemorrhagic stroke - Acute psychosis - The presence of severe concomitant diseases with an expected life expectancy of less than 2 years Exclusion Criteria: Refusal of further participation in the study Atrial Fibrillation Atrial Fibrillation This is an interventional, prospective, multicenter, nonrandomized clinical and epidemiological study. --- C3435T --- --- C1236T --- --- G2677T --- --- Q141K ---
Primary Outcomes
Description: Total number of AF cases newly diagnosed during the study period.
Measure: Total number of AF cases newly diagnosed during the study period. Time: Through study completion, an average of 1 yearDescription: Number of patients who, for the first time ever, were assigned to anticoagulation therapy.
Measure: Number of patients who, for the first time ever, were assigned to anticoagulation therapy. Time: Through study completion, an average of 1 yearDescription: Assessed using data obtained from pharmacokinetic analysis. International normalised ratio (INR) - target range from 2 to 3.
Measure: Compliance to anticoagulation therapy for warfarin. Time: 6 months after administration of anticoagulantsDescription: Assessed using data obtained from pharmacokinetic analysis. Quantitative determination of the concentration of drugs in the blood (blood sampling three hours after taking the drug).
Measure: Compliance to anticoagulation therapy for new oral anticoagulants. Time: 6 months after administration of anticoagulantsDescription: Evaluated as incremental cost-effectiveness ratio of screening per quality adjusted life year gained, and per stroke avoided.
Measure: Cost-effectiveness of using the single-lead CardioQVARK ECG device in screening for AF in primary health care. Time: Through study completion, an average of 1 yearSecondary Outcomes
Description: Mean time to diagnosis.
Measure: Mean time to diagnosis. Time: Through study completion, an average of 1 yearDescription: Number of patients with a CHA₂DS₂-VASc score (the CHA2DS2-VASc Score is the most commonly utilized method to predict thromboembolic risk in atrial fibrillation) of ≥ 1.
Measure: Number of patients with a CHA₂DS₂-VASc score (the CHA2DS2-VASc Score is the most commonly utilized method to predict thromboembolic risk in atrial fibrillation) of ≥ 1. Time: Through study completion, an average of 1 yearDescription: Number of patients with a CHA₂DS₂-VASc score (the CHA2DS2-VASc Score is the most commonly utilized method to predict thromboembolic risk in atrial fibrillation) of ≥ 2.
Measure: Number of patients with a CHA₂DS₂-VASc score (the CHA2DS2-VASc Score is the most commonly utilized method to predict thromboembolic risk in atrial fibrillation) of ≥ 2. Time: Through study completion, an average of 1 yearDescription: Defined as frequency of ischemic stroke or transient ischemic attack in patients with newly diagnosed AF and assigned anticoagulants.
Measure: Incidence of ischemic stroke or transient ischemic attack after enrollment in the study. Time: Through study completion, an average of 1 yearDescription: Defined as frequency of massive hemorrhage in patients with newly diagnosed AF and assigned anticoagulants.
Measure: Incidence of massive hemorrhage after enrollment in the study. Time: Through study completion, an average of 1 yearDescription: Defined as frequency of hemorrhagic stroke in patients with newly diagnosed AF and assigned anticoagulants.
Measure: Incidence of hemorrhagic stroke after enrollment in the study. Time: Through study completion, an average of 1 yearDescription: For warfarin - CYP2C9 (CYP2C9 * 2, CYP2C9 * 3), VKORC1 (1 marker), CYP4F2 (1 marker), GGCX (1 marker). For new oral anticoagulants - rs2244613 of the gene CES1, rs1045642 (C3435T), rs1128503 (C1236T), rs2032582 (G2677T / А) of the gene ABCB1, rs2231142 (С421А, Q141K) of the gene ABCG2, rs776746 (A6986G * 399 CYP3 CYP3) CYP3A4.
Measure: Pharmacogenetic testing by polymorphic markers Time: 6 months after administration of anticoagulants