SNPMiner Trials (Home Page)
Report for Mutation A6986G
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There are 4 clinical trials
Clinical Trials
1 Interest of Calcineurin Activity for the Therapeutic Tacrolimus Monitoring in Renal Recipients
The purpose is to define if calcineurin activity is a better biological parameter than blood concentration for the therapeutic tacrolimus monitoring.
NCT01413685 Renal Transplant Rejection Other: Pharmacokinetics/dynamics
Genotyping of CYP3A5 * 3 (A6986G) and mdr-1: mutations of these proteins could explain the changes of absorption of tacrolimus. --- A6986G ---
Primary Outcomes
Measure: Determination of tacrolimus concentrations in whole blood and of calcineurin activities in lymphocytes Time: at day 8, day15, day21 (pharmacokinetics on 4 times samples), day 28, month 2 and month 3 (residual measurement)Secondary Outcomes
Description: Genotyping of CYP3A5 * 3 (A6986G) and mdr-1: mutations of these proteins could explain the changes of absorption of tacrolimus. For each patient, during the first month of treatment, 5 ml of blood will be collected on EDTA tube. Genotyping is realized by the allelic discrimination technique Taqman, on a ABI Prism 7000 (TaqMan ®) in the Molecular Biology unit, Pharmacogenetics and Hormonology Bicêtre Hospital
Measure: Pharmacogenetics (3A5) Time: at day 8, day 15, day 21, day 28, month 2 and month 32 Functional Genetic Variants Affecting Tacrolimus Trough Levels and Side Effects in Chinese Renal Transplantation.
The purpose of this study is to determine whether functional genetic variants can affect tacrolimus dose corrected trough levels and associate with the side effects in Chinese renal transplant recipients.
NCT03083769 Transplantation
Full understanding of this mechanism is important for the personalized use of tacrolimus and reducing the risk of side effects.The CYP3A5*3 (A6986G) resulting in a splicing defect and the absence of protein activity, was identified as a functional variant (Kuehl P.2001). --- A6986G ---
Primary Outcomes
Description: We will measure the number of participants with acute rejection during the day 1 to day 61 after transplantation. Kaplan-Meier analyses were performed for acute rejection in participants with different genotypes.
Measure: Number of Participants With Acute Rejection Time: Day 1 to Day 61Description: We will measure the number of participants with tacrolimus-related nephrotoxicities during the day 1 to day 61 after transplantation. Kaplan-Meier analyses were performed for tacrolimus-related nephrotoxicities in participants with different genotypes.
Measure: Number of Participants With Tacrolimus-related Nephrotoxicities Time: Day1 to Day 61Description: We will measure the number of participants with tacrolimus-related neurotoxicities during the day 1 to day 61 after transplantation. Kaplan-Meier analyses were performed for tacrolimus-related neurotoxicities in participants with different genotypes.
Measure: Number of Participants With Tacrolimus-related Neurotoxicities Time: Day1 to Day 613 Clinical Trial in Assigning of Tacrolimus Dosage Regimen According to CYP3A5 Genotype in Kidney Transplant Recipients
Kidney transplantation is the most appropriated treatment in end stage renal failure patients in order to improve quality of life. However, patients have to take immunosuppressive drugs to prevent graft rejection. Tacrolimus is the most common immunosuppressive drug used now. However, tacrolimus has narrow therapeutic level and needs regularly therapeutic monitor because of inter-individual variation in dosage regimen. Not only age, body weight and drug interaction but also genetic factor in metabolic pathway of tacrolimus plays an important role in tacrolimus blood level. Previous data showed CYP3A5 genetic polymorphism was significant effect tacrolimus blood level. From previous study showed the mean dose of tacrolimus required for the induction phase was significantly higher (P= 0.006) in the CYP3A5*1/*1 group at 0.142±0.050 mg/kg/day than that required by patients who carried either the CYP3A5*1/*3 group of 0.097±0.040 mg/kg/day or the CYP3A5*3/*3 group of 0.077±0.020 mg/kg/day. Tacrolimus maintenance dose required for CYP3A5*1/*1 group of 0.12±0.03 mg/kg/day was 1.3 times higher (P<0.0001) than used for the CYP3A5*1/*3 at 0.09±0.03 mg/kg/day and 2.4 times higher than the CYP3A5*3/*3 group of 0.05±0.02 mg/kg/day. Therefore, the investigators plan to investigate a prospective study to determine the clinical outcome of tacrolimus treatment in kidney transplant recipients between genotype guided dosage regimen group and conventional group.
NCT03173820 Kidney Transplantation Genetic: Genotype guided Genetic: Conventional
CYP3A5*3, an A to G transition (A6986G) within intron 3 results in the production of a truncated protein, is the most common allele variant. --- A6986G ---
Primary Outcomes
Description: Proportion of patients whose tacrolimus level were in therapeutic range at day 3 post transplantation
Measure: Mean tacrolimus level Time: at day 3 after transplantationSecondary Outcomes
Description: Proportion of patients whose tacrolimus level were in therapeutic range at day 1, 3, 5, 7, 14, 30,60, 90, 120, 150 and 180 days post transplantation
Measure: Mean tacrolimus level Time: at day 1, 3, 5, 7, 14, 30,60, 90, 120, 150 and 180 days post transplantationDescription: Compare incidence of delay graft rejection between 2 groups
Measure: Incidence of delay graft rejection Time: day 1- 6 month after transplantationDescription: Compare mean GFR level at day 7, 14, 30, 60, 90, 120, 150, and 180 days after transplantation
Measure: Mean GFR level Time: at day 7, 14, 30, 60, 90, 120, 150, and 180 days after transplantation4 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 --- --- A6986G ---
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