SNPMiner Trials (Home Page)
Report for Mutation R496L
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There is one clinical trial.
Clinical Trials
1 A Phase 1/2, Multi-Center, Open-Label, Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Exploratory Efficacy of Olipudase Alfa in Pediatric Patients Aged <18 Years With Acid Sphingomyelinase Deficiency
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.
NCT02292654 Sphingomyelin Lipidosis Drug: Olipudase alfa MeSH:Niemann-Pick Disease, Type A Niemann-Pick Diseases Niemann-Pick Disease, Type C Lipidoses
- 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 64Measure: 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 52Measure: 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