SNPMiner Trials by Shray Alag
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SNPMiner Trials (Home Page)
Report for Mutation D1790G
Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene
There are 2 clinical trials
Clinical Trials
1 An Open-label Study to Evaluate the Effect of Single Dose GS-6615 on QT, Safety and Tolerability in Subjects With Long QT-3 Syndrome
This mechanism of action study is to evaluate the effect of oral GS-6615 on the QTc interval in participants with Long QT-3 syndrome. This study will be performed in six cohorts of participants in a sequential manner, four single-dose cohorts followed by two multiple-dose cohorts. Duration of treatment for the single-dose cohorts and multiple-dose cohorts will be 1 day and 7 days, respectively. Participants will be confined at the study center from check-in until completion of assessments at discharge. Participants will be continuously monitored using real-time telemetry throughout the in-clinic confinement. Physical examinations including vital signs, laboratory analysis, electrocardiograms (ECGs), Holter recordings and echocardiography (ECHO) will be performed at defined time points throughout the study period. Assessment of adverse events and concomitant medications will continue throughout the duration of the study.
NCT01849003 Conditions
- Long QT Syndrome
Interventions
- Drug: GS-6615
MeSH:Long QT Syndrome Syndrome
Inclusion Criteria: 1. Males and females between ages 18-65 years (inclusive) at time of screening 2. Documented LQT-3 genotype with one of the following mutations: delta KPQ, R1623Q, N1325S, E1784K, S1787N, D1790G, G1631D, 1795insD, delF1617, R1644H, L409P, F2004L, I1768V, T1304M, A1330T, or F1596I3. --- R1623Q --- --- N1325S --- --- E1784K --- --- S1787N --- --- D1790G ---
Psychosocial or addictive disorders that would interfere with ability to give informed consent or could compromise compliance with the protocol Inclusion Criteria: 1. Males and females between ages 18-65 years (inclusive) at time of screening 2. Documented LQT-3 genotype with one of the following mutations: delta KPQ, R1623Q, N1325S, E1784K, S1787N, D1790G, G1631D, 1795insD, delF1617, R1644H, L409P, F2004L, I1768V, T1304M, A1330T, or F1596I3. --- R1623Q --- --- N1325S --- --- E1784K --- --- S1787N --- --- D1790G ---
Primary Outcomes
Description: Changes in QTc intervals (Fridericia formula; QTcF) from the time-matched ECG in the primary lead V5. In case QT cannot be measured in lead V5, lead II will be designated as the primary lead Change from the time-matched ECG on Day -1 to Day 1 for Cohorts 1-4 Change from the time-matched ECG average of Day -1 and Day -2 to Days 1-7 for Cohort 5 and 6
Measure: Changes in QTc intervals (Fridericia formula) Time: Baseline through Day 7Secondary Outcomes
Measure: Incidence of Adverse Events (AEs) Time: Baseline through Day 22Description: ECHO parameters relevant for measurement of diastolic function will be assessed.
Measure: Changes in ECHO parameters Time: Baseline through Day 7Measure: Area under the plasma concentration-time curve (AUC) from time 0 to the last quantifiable concentration of GS-6615 Time: Baseline through Day 12
Measure: Maximum observed plasma concentration (Cmax) of GS-6615 Time: Baseline through Day 12
Measure: Time to maximum observed concentration (Tmax) of GS-6615 Time: Baseline through Day 12
Description: ECG parameters assessed will include PR, RR, QRS, and QT. PR: electrocardiographic interval occurring between the onset of the P wave and the QRS complex representing time for atrial and ventricular depolarization, respectively RR: electrocardiographic interval representing the time measurement between the R wave of one heartbeat and the R wave of the preceding heartbeat QRS: electrocardiographic deflection between the beginning of the Q wave and termination of the S wave representing time for ventricular depolarization QT: electrocardiographic interval between the beginning of the Q wave and termination of the T wave representing the time for both ventricular depolarization and repolarization to occur
Measure: Changes in ECG parameters Time: Baseline through Day 12Description: Changes in QTcB from the time-matched ECG in the primary lead V5. In case QT cannot be measured in lead V5, lead II will be designated as the primary lead Change from the time-matched ECG on Day -1 to Day 1 for Cohorts 1-4 Change from the time-matched ECG average of Day -1 and Day -2 to Days 1-7 for Cohort 5 and 6
Measure: Changes in QTc interval (Bazett [QTcB]) Time: Baseline through Day 72 Long Term Prophylactic Therapy of Congenital Long QT Syndrome Type III (LQT3) With Ranolazine
The purpose of this study is to determine whether ranolazine will reduce the risk of arrhythmic events in patients with long QT syndrome type 3.
NCT01728025 Conditions
- Long QT Syndrome Type 3
Interventions
- Drug: Ranolazine
MeSH:Long QT Syndrome Syndrome
Inclusion Criteria: - Long QT patients with genetic confirmation of carrier-status for the D1790G mutation in the SCN5A gene - Corrected QT interval > 460 msec Exclusion Criteria: - Need for therapy with medications that are potent or moderately potent CYP3A inhibitors (such as ketoconazole, diltiazem, verapamil, macrolide antibiotics or HIV protease inhibitors) Inclusion Criteria: - Long QT patients with genetic confirmation of carrier-status for the D1790G mutation in the SCN5A gene - Corrected QT interval > 460 msec Exclusion Criteria: - Need for therapy with medications that are potent or moderately potent CYP3A inhibitors (such as ketoconazole, diltiazem, verapamil, macrolide antibiotics or HIV protease inhibitors) Long QT Syndrome Type 3 Long QT Syndrome Syndrome null --- D1790G ---
Inclusion Criteria: - Long QT patients with genetic confirmation of carrier-status for the D1790G mutation in the SCN5A gene - Corrected QT interval > 460 msec Exclusion Criteria: - Need for therapy with medications that are potent or moderately potent CYP3A inhibitors (such as ketoconazole, diltiazem, verapamil, macrolide antibiotics or HIV protease inhibitors) Inclusion Criteria: - Long QT patients with genetic confirmation of carrier-status for the D1790G mutation in the SCN5A gene - Corrected QT interval > 460 msec Exclusion Criteria: - Need for therapy with medications that are potent or moderately potent CYP3A inhibitors (such as ketoconazole, diltiazem, verapamil, macrolide antibiotics or HIV protease inhibitors) Long QT Syndrome Type 3 Long QT Syndrome Syndrome null --- D1790G --- --- D1790G ---