SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation E1784K

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

There is one clinical trial.

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
  1. Long QT Syndrome
Interventions
  1. 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 ---

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 ---

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 7

Secondary Outcomes

Measure: Incidence of Adverse Events (AEs)

Time: Baseline through Day 22

Description: ECHO parameters relevant for measurement of diastolic function will be assessed.

Measure: Changes in ECHO parameters

Time: Baseline through Day 7

Measure: 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 12

Description: 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 7


HPO Nodes