SNPMiner Trials by Shray Alag


SNPMiner Trials: Mutation Report


Report for Mutation A6986G

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

There are 3 clinical trials

Clinical Trials


1 Functional Genetic Variants Affecting Tacrolimus Trough Levels and Side Effects in Chinese Renal Transplantation and Liver 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 transplantation and liver transplantation.

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: time to acute rejection

Measure: Kidney transplant recipient genotypes

Time: Day 0 to Day 30

Description: time to Calcineurin Inhibitor (CNI)-related nephrotoxicities

Measure: Kidney transplant recipient genotypes

Time: Day 0 to Day 30

Description: time to Calcineurin Inhibitor (CNI)-related neurotoxicities

Measure: Kidney transplant recipient genotypes

Time: Day 0 to Day 30

Description: time to acute rejection

Measure: Liver transplant recipient genotypes

Time: Day 0 to Day 30

Description: time to Calcineurin Inhibitor (CNI)-related nephrotoxicities

Measure: Liver transplant recipient genotypes

Time: Day 0 to Day 30

Description: time to Calcineurin Inhibitor (CNI)-related neurotoxicities

Measure: Liver transplant recipient genotypes

Time: Day 0 to Day 30

Description: time to acute rejection

Measure: Liver donor genotypes

Time: Day 0 to Day 30

Description: time to Calcineurin Inhibitor (CNI)-related nephrotoxicities

Measure: Liver donor genotypes

Time: Day 0 to Day 30

Description: time to Calcineurin Inhibitor (CNI)-related neurotoxicities

Measure: Liver donor genotypes

Time: Day 0 to Day 30

2 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 3

3 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 transplantation

Secondary 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 transplantation

Description: Compare incidence of delay graft rejection between 2 groups

Measure: Incidence of delay graft rejection

Time: day 1- 6 month after transplantation

Description: 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 transplantation


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