Pyruvate kinase deficiency anaemia – European Clinical Trials Information Network

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

Wed, 29 Apr 2026 15:00:48 +0000

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.

Study on Gene Therapy for Pyruvate Kinase Deficiency Using Autologous CD34+ Cells in Adults and Children

Wed, 29 Apr 2026 15:00:20 +0000

This clinical trial is focused on studying a condition known as Pyruvate Kinase Deficiency (PKD), which is an inherited disorder affecting the enzyme pyruvate kinase. This enzyme is crucial for the survival of red blood cells. The trial aims to evaluate the safety of a new treatment involving autologous CD34+ hematopoietic stem cells that have been modified with a lentiviral vector carrying a gene called the codon-optimized red cell pyruvate kinase (coRPK) gene. This treatment is a form of gene therapy, which involves altering the genes inside a person’s cells to treat or stop disease.

The study will involve the infusion of these modified stem cells into both adult and pediatric participants who have been diagnosed with PKD. The main goal is to assess the safety and any potential side effects of this gene therapy. Participants will receive the treatment through an intravenous infusion, which means the modified cells will be delivered directly into the bloodstream. The trial will monitor participants for any adverse reactions and evaluate how well the treatment works in helping the body produce healthy red blood cells.

In addition to the gene therapy, the study will also use other medications such as Busulfan, Filgrastim, and Plerixafor to support the treatment process. Busulfan is used as a conditioning treatment before stem cell transplantation, Filgrastim helps stimulate the production of white blood cells, and Plerixafor aids in mobilizing stem cells for collection. The trial will not only focus on the safety of the gene therapy but also observe the effects of these additional medications in the treatment process. Participants may receive a placebo as part of the study to compare the effects of the actual treatment against no active treatment. The study is expected to continue until October 2025.

Study on the Effectiveness and Safety of Mitapivat in Children with Pyruvate Kinase Deficiency Not Receiving Regular Blood Transfusions

Wed, 29 Apr 2026 14:27:34 +0000

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.

Study on Long-Term Safety of Gene Therapy for Pyruvate Kinase Deficiency Using Autologous CD34+ Cells in Adults and Children

Wed, 29 Apr 2026 14:24:58 +0000

This clinical trial is focused on studying a rare blood disorder called Pyruvate Kinase Deficiency (PKD). PKD is a condition where the body lacks enough of an enzyme called pyruvate kinase, which is essential for red blood cells to function properly. This can lead to anemia, a condition where the body does not have enough healthy red blood cells. The treatment being studied is a gene therapy product known as Merilen (also referred to by its code name, RP-L301). This treatment involves using the patient’s own blood stem cells, which are modified outside the body with a special virus to carry a corrected version of the gene responsible for PKD. These modified cells are then infused back into the patient through a process called intravenous infusion.

The purpose of this study is to evaluate the long-term safety of this gene therapy in both adults and children with PKD. Participants in the study will receive the infusion of their own modified cells and will be monitored over an extended period to assess how well the treatment works and to check for any potential side effects. The study aims to see if the treatment can help reduce the need for blood transfusions and improve anemia symptoms in patients with PKD.

Throughout the study, researchers will keep track of various health indicators, such as overall survival and any changes in the genetic makeup of the blood cells. They will also monitor for any adverse events, including those related to iron overload or the development of any new health conditions. This long-term follow-up is crucial to understanding the potential benefits and risks of the gene therapy for individuals with Pyruvate Kinase Deficiency.