Mitapivat for the Treatment of Pyruvate Kinase Deficiency

An activator of red cell pyruvate kinase improved hemoglobin and quality of life in patients with PK deficiency.

Pyruvate kinase (PK) deficiency is an inherited, rare chronic form of hemolysis resulting in anemia and, potentially, pigmented gallstones and iron overload, among other complications. Mutations involving the PKLR gene are common, though there are many pathogenic variants involving this gene. Treatment is typically supportive and includes transfusions, splenectomy, and cholecystectomy for those with gallstones.

In a prior phase 2 study of mitapivat, an activator of red cell pyruvate kinase, roughly half the patients experienced an increase in hemoglobin level of at least 1 g/dL. Now, in an industry-sponsored phase 3 study (ACTIVATE), researchers compared mitapivat to placebo in 80 patients with PK deficiency. Included patients had PKLR mutat…

Reviewing Author

Brady L. Stein, MD, MHS

Disclosures

Leadership Positions in Professional SocietiesAmerican Society of Hematology (Senior Editor, ASH Self-Assessment Program; guideline development)

Brady L. Stein, MD, MHS

Disclosures

Leadership Positions in Professional SocietiesAmerican Society of Hematology (Senior Editor, ASH Self-Assessment Program; guideline development)

Mitapivat for the Treatment of Pyruvate Kinase Deficiency

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Reviewing Author