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Study on the Effectiveness and Safety of Mitapivat for Children with Pyruvate Kinase Deficiency Receiving Regular Blood Transfusions

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What is this trial about?

A plain-language summary of the goals, design and what participants do

This clinical trial is focused on studying a condition known as Pyruvate Kinase Deficiency, which is a rare blood disorder. The trial will evaluate a treatment called Mitapivat, also known by its code name AG-348. Mitapivat is a medication that comes in the form of tablets or granules and is taken orally. The purpose of the study is to determine how effective and safe Mitapivat is for children with Pyruvate Kinase Deficiency who regularly receive blood transfusions.

Participants in the study will be randomly assigned to receive either Mitapivat or a placebo, which is a substance with no active medication. The study will begin with a period where neither the participants nor the researchers know who is receiving Mitapivat or the placebo. This is known as a double-blind study. After this initial phase, there will be an open-label extension period lasting five years, during which all participants will have the option to receive Mitapivat. The main goal is to see if Mitapivat can reduce the need for blood transfusions in these children.

The study will involve regular monitoring and assessments to ensure the safety and effectiveness of the treatment. Participants will be closely observed to track any changes in their condition and to gather data on how Mitapivat affects their need for blood transfusions. This trial aims to provide valuable information that could lead to improved treatment options for children with Pyruvate Kinase Deficiency.

The research process

The trial runs in 6 steps – from screening to follow-up. Each step says what happens and what the team monitors.

  1. Step 1

    Joining the study

    Upon joining the study, informed consent must be obtained from the participant or their legal representative. This consent is necessary before any study-related procedures can begin.

    Participants must be between 1 and 18 years old, with specific weight requirements for those between 12 and 24 months.

    Participants must have a confirmed diagnosis of pyruvate kinase deficiency, verified through genetic testing.

  2. Step 2

    Initial assessment

    An initial assessment will be conducted to confirm eligibility, including a review of transfusion history over the past year.

    Participants must have received between 6 and 26 transfusions in the year prior to joining the study.

  3. Step 3

    Double-blind period

    Participants will be randomly assigned to receive either mitapivat or a placebo. The medication will be administered orally in the form of tablets.

    The primary goal during this period is to assess the reduction in transfusion needs from Week 9 through Week 32.

  4. Step 4

    Medication administration

    Participants will take the assigned medication as prescribed. The dosage and frequency will be determined by the study protocol.

    Participants must continue taking folic acid supplements as part of their routine care throughout the study.

  5. Step 5

    Evaluation of results

    The effectiveness of mitapivat will be evaluated by measuring the reduction in the need for blood transfusions.

    The primary endpoint is a reduction of at least 33% in transfusion volume compared to historical data.

  6. Step 6

    Open-label extension period

    After the double-blind period, participants will have the option to continue receiving mitapivat for an additional 5 years.

    This phase allows for ongoing assessment of the medication's long-term safety and effectiveness.

Who can join the trial?

7 criteria

  • Provide written informed consent, which means agreeing to participate in the study after understanding all the details. This can be given by the participant or their legal representative, such as a parent or guardian. The participant must also agree to follow all study procedures.
  • Be between 1 and less than 18 years old. If the participant is between 12 and 24 months old, they must weigh at least 7 kilograms.
  • Have a confirmed diagnosis of **Pyruvate Kinase Deficiency**. This is shown by having at least two changes in the **PKLR gene**, with at least one being a specific type called a missense mutation. This will be checked by a special lab test.
  • Have had between 6 and 26 blood transfusions in the year before agreeing to join the study.
  • Have complete records of all blood transfusions from the past year, including the dates, the amount of blood received, and blood test results taken within a week before each transfusion for at least 80% of the transfusions.
  • Be taking **folic acid** supplements as part of regular medical care for at least 21 days before starting the study medication, and continue taking it during the study.
  • If a female participant has started menstruating or has reached a certain stage of breast development, she must either not engage in sexual activities that could lead to pregnancy or agree to use two forms of birth control, one of which must be highly effective, from the time of consent until 28 days after the last dose of the study medication.

Who cannot join the trial?

1 criterion

  • There are no specific reasons listed that would prevent a patient from participating in this study.
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Investigated drugs

Mitapivat is a medication being studied for its effectiveness in treating children with pyruvate kinase deficiency, a condition that affects red blood cells and often requires regular blood transfusions. The goal of using mitapivat in this trial is to see if it can reduce the need for these transfusions, potentially improving the quality of life for these patients.

What is already known about the treatment

Mitapivat – Mitapivat is administered orally and is currently being studied in clinical trials for its effectiveness in treating pyruvate kinase deficiency, particularly in pediatric patients who require regular blood transfusions. It is in the phase 3 stage of clinical trials, indicating it is being evaluated for safety and efficacy before potential approval for widespread medical use. The main therapeutic indication for mitapivat is to reduce the need for blood transfusions in patients with pyruvate kinase deficiency. At the molecular level, mitapivat works by activating the pyruvate kinase enzyme, which plays a crucial role in the energy production pathway of red blood cells. It is classified pharmacologically as a pyruvate kinase activator.

Investigated diseases

Pyruvate Kinase Deficiency – Pyruvate kinase deficiency is a rare genetic disorder that affects the red blood cells, leading to a condition known as hemolytic anemia. This occurs because the red blood cells break down faster than the body can produce them. The deficiency is caused by mutations in the PKLR gene, which leads to a lack of the enzyme pyruvate kinase, essential for the energy production in red blood cells. As a result, affected individuals may experience symptoms such as fatigue, jaundice, and an enlarged spleen. The severity of symptoms can vary widely among individuals, with some experiencing mild anemia and others having more severe symptoms. Over time, the condition can lead to complications related to chronic anemia and increased red blood cell destruction.
Trial detailsLast updated 7 Oct 2026
Age0-17PhasePhase IIITrial ID2024-515024-37-00Protocol codeAG348-C-022Estimated enrolment49 patientsSponsorAgios Pharmaceuticals Inc.

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