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Report for Clinical Trial NCT03559699

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

An Open-Label Study To Evaluate the Efficacy and Safety of AG-348 in Regularly Transfused Adult Subjects With Pyruvate Kinase (PK) Deficiency

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.

NCT03559699 Pyruvate Kinase Deficiency Anemia, Hemolytic
MeSH:Anemia, Hemolytic, Congenital Nonspherocytic Anemia, Hemolytic Pyruvate Metabolism, Inborn Errors
HPO:Hemolytic anemia Microangiopathic hemolytic anemia

1 Interventions

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 ---



HPO Nodes


HPO: