Mitapivat is currently in clinical development for the treatment of adult patients with pyruvate kinase deficiency (PKD) who have regular blood transfusions and those who do not have regular blood transfusions. PKD is a genetic blood disorder caused by low levels of the enzyme pyruvate kinase (PK). Low levels of PK result in a deficiency in energy and causes red blood cells to break down too early. This is known as haemolytic anaemia. Symptoms of PKD vary significantly with some patients requiring no treatment and some patients requiring blood transfusions, surgery to remove the spleen or haematopoietic stem cell transplant which are all associated with risks and complications. There are currently no disease modifying treatments approved for the treatment of PKD.
Mitapivat is administered as an oral tablet, twice a day. Mitapivat works by activating normal PK and mutated PK enzymes. Mitapivat has been shown in clinical trials to be safe and to rapidly increase the haemoglobin levels of adults with PKD. If licensed, mitapivat would be the first approved disease modifying therapy for PKD patients and may reduce the need for surgery, transplantation or transfusions.
Deferiprone is in clinical development for patients with sickle-cell disorder (SCD) and other anaemias that are suffering from iron overload due to frequent transfusions to increase their red blood cell count. SCD is a group of inherited disorders where the red blood cells become hard and sticky and look like a C-shaped farm tool called a “sickle”. The sickle red blood cells die early, and patients often require blood transfusions. Iron overload is an effect of frequent transfusions in SCD. Excess iron in the body can be toxic to major organs like the heart and liver.