SNPMiner Trials (Home Page)
Report for Mutation R496L
 Developed by Shray Alag, 2020.
SNP Clinical Trial Gene 
There is one clinical trial. 
Clinical Trials
      Primary Objective:
      To evaluate the safety and tolerability of olipudase alfa administered intravenously in
      pediatric patients every 2 weeks for 52 weeks.
      Secondary Objective:
      To characterize the pharmacokinetic profile and evaluate the pharmacodynamics and exploratory
      efficacy of olipudase alfa administered intravenously in pediatric patients every 2 weeks for
      52 weeks.
    
-  The patients is homozygous for SMPD1 gene mutations R496L, L302P, and fs330 or any
             combination of these 3 mutations. --- R496L --- 
  Primary Outcomes 
 Measure: Number of adverse events
 Time: From screening through Week 64
 Measure: Clinically significant changes in laboratory parameters (complete blood count (CBC), clinical chemistry, and urinalysis)
 Time: From screening through Week 64
 Measure: Clinically significant changes in physical examinations (vital signs, electrocardiogram (ECG), doppler echocardiography, and liver ultrasound doppler)
 Time: From screening through Week 64
  Secondary Outcomes 
 Measure: Maximum concentration (Cmax)
 Time: With the first infusion at 0.3, 1.0 and 3.0 mg/kg and at Week 52
 Measure: Area under the curve until the last measurable concentration (AUClast)
 Time: With the first infusion at 0.3, 1.0 and 3.0 mg/kg and at Week 52
 Measure: Area under the curve extrapolated to infinity (AUC)
 Time: With the first infusion at 0.3, 1.0 and 3.0 mg/kg and at Week 52
 Measure: Half-life (t1/2)
 Time: With the first infusion at 0.3, 1.0 and 3.0 mg/kg and at Week 52
 Measure: Clearance (CL)
 Time: With the first infusion at 0.3, 1.0 and 3.0 mg/kg and at Week 52
 Measure: Volume of distribution (Vss)
 Time: With the first infusion at 0.3, 1.0 and 3.0 mg/kg and at Week 52
 Measure: Change in sphingomyelin levels
 Time: From Day 1 through Week 64
 Measure: Change in sphingomyelin metabolite levels
 Time: From Day 1 through Week 64
HPO Nodes