SNPMiner Trials (Home Page)
Report for Clinical Trial NCT03559699
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
Study AG348-C-007 is a multicenter study designed to evaluate the efficacy and safety of
treatment with AG-348 in a minimum of 20, with up to 40, subjects with pyruvate kinase
deficiency (PKD), who are regularly receiving blood transfusions. The study is comprised of
two parts. During the Part 1 Dose Optimization Period of the study, all participants will
start on a dose of 5 mg AG-348 administered twice daily. Over the course of Part 1 each
participant's dose will be optimized individually, up to a maximum dose of 50 milligrams
(mg), twice daily. During the Part 2 Fixed-Dose Period, participants will receive AG-348 at
their optimized dose from Part 1.
Name: AG-348
Description: Part 1 (Dose Optimization Period): All participants will begin by receiving 5 milligrams (mg) orally, twice a day. Each participant's dose of AG-348 may be increased to 20 mg twice a day or 50 mg twice a day depending on their response to AG-348 and their tolerance.
Part 2 (Fixed Dose Period): Last dose received in Part 1, twice a day.
Type: Drug
Group Labels: 1 Part 1: Dose Optimization AG-348
Primary Outcomes
Measure: Percentage of Participants Achieving a Reduction in Transfusion Burden in Part 2 Time: From Part 2, Day 1 to the end of the study (Part 2, Week 24)
Secondary Outcomes
Measure: Number of RBC Units Transfused During the Study Time: From Part 1, Day 1 to the end of the study (Part 2, Week 24)
Measure: Number of Transfusion Episodes in Part 2 Time: Part 2, Day 1 to the end of study (Part 2, Week 24)
Measure: Percentage of Transfusion-Free Participants in Part 2 Time: Part 2, Day 1 to the end of study (Part 2, Week 24)
Measure: Percentage of Participants Achieving Normal Hemoglobin (Hb) Concentrations in Part 2 Time: Part 2, Day 1 to the end of study (Part 2, Week 24)
Measure: Bone Mineral Density T-Score Time: Part 1, Day 1, Part 2, Day 1 and Part 2, Week 24
Measure: Bone Mineral Density Z-Score Time: Part 1, Day 1, Part 2, Day 1 and Part 2, Week 24
Measure: Percentage of Participants Experiencing an Adverse Event Time: Through 4 weeks after last dose (approximately Part 2, Week 31)
Measure: Percentage of Participants Experiencing an Adverse Event of Special Interest (AESI) Time: Through 4 weeks after last dose (approximately Part 2, Week 31)
Purpose: Treatment
Allocation: N/A
Single Group Assignment
There is one SNP
SNPs
1 R479H
Exclusion Criteria:
- Homozygous for the R479H mutation or have 2 non-missense mutations, without the
presence of another missense mutation, in the PKLR gene;
- Significant medical condition that confers an unacceptable risk to participate in the
study, and/or that could confound the interpretation of the study data;
- History of transfusions occurring on average more frequently than once every 3 weeks
during the 52 weeks prior to date of informed consent;
- Splenectomy scheduled during the study treatment period or have undergone splenectomy
within 12 months prior to signing informed consent;
- Currently enrolled in another therapeutic clinical trial. --- R479H ---