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Study on the Effectiveness and Safety of Mitapivat in Children with Pyruvate Kinase Deficiency Not 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 rare blood disorder called Pyruvate Kinase Deficiency. This condition affects the red blood cells, which are responsible for carrying oxygen throughout the body. The study will evaluate a treatment using a medication called Mitapivat, which is taken in capsule form. The purpose of the study is to determine how effective and safe Mitapivat is for children with Pyruvate Kinase Deficiency who do not receive regular blood transfusions.

Participants in the study will be randomly assigned to receive either Mitapivat or a placebo, which looks like the medication but does not contain the active ingredient. 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 of the study is to see if Mitapivat can increase the levels of hemoglobin, a protein in red blood cells that carries oxygen, in children with Pyruvate Kinase Deficiency. The study will monitor changes in hemoglobin levels over time to assess the treatment's effectiveness. Participants will be closely observed throughout the study to ensure their safety and to gather information on how well the treatment works.

The research process

The trial runs in 2 steps – from screening to follow-up. Each step says what happens and what the team monitors.

  1. Step 1

    Initial treatment phase

    The study begins with a **double-blind period** where participants receive either the investigational drug, **mitapivat sulfate**, or a **placebo**. The medication is administered in the form of a **capsule** taken orally.

    The primary goal during this phase is to evaluate the effectiveness of mitapivat by measuring the increase in **hemoglobin (Hb)** levels. This is assessed through regular blood tests at specific intervals, particularly at weeks 12, 16, and 20.

  2. Step 2

    Open-label extension period

    Following the initial treatment phase, participants have the option to enter a **5-year open-label extension period**. During this time, all participants receive mitapivat, regardless of their initial group assignment.

    The purpose of this phase is to continue monitoring the long-term safety and effectiveness of mitapivat in managing **pyruvate kinase deficiency**.

Who can join the trial?

7 criteria

  • Written informed consent must be obtained from the participant or their legal representative, such as a parent or guardian. The participant must also agree to follow all study procedures for the entire study.
  • Participants must be between 1 and less than 18 years old. Those between 12 and 24 months must weigh at least 7 kg.
  • Participants must have a confirmed diagnosis of **Pyruvate Kinase Deficiency**. This means they have at least two changes in the **PKLR gene**, with at least one being a specific type of change called a **missense mutation**. This will be checked by a special lab test.
  • Participants should not have received more than 5 red blood cell transfusions in the year before joining the study and should not have had any transfusions in the 12 weeks before starting the study medication.
  • For participants aged 12 to less than 18 years, their **hemoglobin** level should be 10 g/dL or lower. For those aged 1 to less than 12 years, it should be 9 g/dL or lower. Hemoglobin is a protein in red blood cells that carries oxygen. This level should be based on at least two tests taken at least 7 days apart during the screening period.
  • Participants must have been taking **folic acid** supplements as part of their regular care for at least 21 days before starting the study medication and must continue taking it during the study.
  • Female participants who have started menstruating or have reached a certain stage of breast development must either not engage in sexual activities that could lead to pregnancy or agree to use two forms of birth control. One form must be highly effective, and this must be done from the time of consent until 28 days after the last dose of the study medication.

Who cannot join the trial?

8 criteria

  • Patients who are regularly receiving blood transfusions cannot participate.
  • Patients with other serious health conditions that might interfere with the study cannot participate.
  • Patients who are taking medications that could affect the study results cannot participate.
  • Patients who have had a recent surgery or are planning to have surgery soon cannot participate.
  • Patients who are pregnant or breastfeeding cannot participate.
  • Patients who have participated in another clinical trial recently cannot participate.
  • Patients who have allergies to the study medication or similar medications cannot participate.
  • Patients who are unable to follow the study procedures cannot participate.
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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. The trial aims to see if mitapivat can help increase hemoglobin levels in these patients, who do not receive regular blood transfusions.

What is already known about the treatment

Mitapivat – Mitapivat is administered orally in tablet form and is currently being studied in clinical trials for its effectiveness in treating pyruvate kinase deficiency, a rare genetic disorder affecting red blood cells. The medication is in the advanced stages of clinical research, with ongoing studies evaluating its safety and efficacy. Mitapivat works by activating the pyruvate kinase enzyme, which plays a crucial role in the energy production process of red blood cells, helping to increase hemoglobin levels. It is classified as a pyruvate kinase activator and is being explored as a potential treatment to improve the quality of life for individuals with this condition.

Investigated diseases

Pyruvate Kinase Deficiency – This is a rare genetic disorder that affects the red blood cells, leading to a shortage of pyruvate kinase, an enzyme crucial for energy production in these cells. As a result, red blood cells break down more easily, causing hemolytic anemia. Individuals with this condition may experience symptoms such as fatigue, jaundice, and an enlarged spleen. The severity of symptoms can vary widely among affected individuals. Over time, the body may try to compensate for the loss of red blood cells by producing more, but this can lead to further complications. The condition is typically inherited in an autosomal recessive pattern.
Trial detailsLast updated 7 Oct 2026
Age0-17PhasePhase IIITrial ID2024-515025-28-00Protocol codeAG348-C-023Estimated enrolment32 patientsSponsorAgios Pharmaceuticals Inc.

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