First gene therapy for pyruvate kinase deficiency (PKD)

Pyruvate kinase deficiency (PKD) is a rare genetic disorder, present in 5 / 100,000 people, caused by mutations in PKLR gene. Carriers have inactive pyruvate kinase enzyme, which leads to a type of anemia, ranging in severity from no symptoms to life-threatening condition. Individuals on the latter side of spectrum are treated with blood transfusions.

A new clinical trial (NCT04105166) aims to improve life quality of PKD patients. 2 adults and 4 children will receive genetic treatment outside the body. Hematopoietic stem cells of participants will be collected from the body, genetically modified in a laboratory, and then transplanted back. Details about the procedure were not disclosed. Typically, lentiviral vector integrates its genes – in this case, healthy PKLR – into cells’ genomes.

Author of the trial – Rocket Pharmaceuticals – conducted similar study in Fanconi anemia, where they managed to stabilize patients.

The study is expected to be completed in 2023.

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