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PYRUVATE KINASE DEFICIENCY | FDA Approves First Drug For The Rare Inherited Anemia

Mitapivat by Agios Pharmaceuticals becomes the first medicine ever approved for people with rare blood disorder pyruvate kinase deficiency.

The US Food and Drug Administration (FDA) has announced the approval of Mitapivat (PYRUKYND®) tablets as treatment for haemolytic anemia in adults with pyruvate kinase (PK) deficiency. The oral PK activator, developed by Agios Pharmaceuticals, is the first approved disease-modifying therapy for this disease.

“PYRUKYND® is the first approved therapy for PK deficiency and marks an important milestone for these patients, who may face tremendous challenges and debilitating symptoms throughout the course of this lifelong disease,” said Rachael Grace, M.D., MMSc, Pediatric Haematologist, Director of Haematology Clinical Research at Boston Children’s Hospital and an investigator in the Phase 2 DRIVE PK and Phase 3 ACTIVATE studies.

“We remain committed to partnering with patients, caregivers, advocates, and healthcare providers to ensure that the impact of PYRUKYND® is maximized through robust support, education, and access programs. These connections have fueled today’s tremendous milestone for the PK deficiency community”, stated Jackie Fouse, Ph.D., Chief Executive Officer at Agios.

The approval was based on data from ACTIVATE and ACTIVATE-T Phase 3 Studies and supported treatment regardless of transfusion status. PYRUKYND® was reviewed by the FDA under Priority Review and was previously granted orphan drug designation. PYRUKYND® is also under review by the European Medicines Agency (EMA) as a potential treatment for adults with PK deficiency, and Agios expects a regulatory decision in the EU by the end of 2022.

Global trial sites for Phase 3 ENERGIZE and ENERGIZE-T studies of mitapivat in not regularly transfused and regularly transfused adults with α- or β-thalassaemia have been initiated. Mitapivat has also been granted Orphan Drug Designation for the treatment of patients with non-transfusion-dependent α- and β-thalassaemia (NTDT).


About PK Deficiency

Pyruvate kinase deficiency is a rare disease, occurring in approximately 3-9 cases per 1 million people. The inherited disorder causes premature red blood cell destruction which leads to anaemia. Symptoms often experienced by patients with PK deficiency include fatigue, unusually pale skin, jaundice, shortness of breath, and a fast heart rate. Additionally, patients can develop more severe symptoms such as an enlarged spleen, a surplus of iron in the blood from repeated blood transfusions, and gallstones.

For more information on PK deficiency, visit


PYRUKYND® Safety and Efficacy Data

The effectiveness of the drug was evaluated in 2 studies. The randomized, double-blind, placebo-controlled clinical study included 80 adults with pyruvate kinase deficiency who didn’t receive blood transfusions. The single-arm study examined 27 adults with PK deficiency who did receive regular blood transfusions.

Patients in both studies were treated with up to 50 mg of mitapivat orally twice a day following an initial dose adjustment period. In the randomized study, patients received the treatment for an average of 24 weeks and for about 40 weeks in the single-arm study.

The effectiveness of mitapivat in the randomized study was determined by a hemoglobin response. By the end of the study, a hemoglobin response was observed in 40% of the patients who received mitapivat compared with no patients in the placebo group. The single-arm study evaluated the efficacy and safety of mitapivat by utilizing a dose-escalation period for up to 16 weeks and eventually following with a fixed-dose period for an additional 24 weeks.

A reduction in transfusion burden, defined as a reduction of at least 33% of red blood cell units transfused during the last 24 weeks of treatment. This was compared to the historical transfusion burden on the individual patient, as standardized to 24 weeks.  Of the patients who received mitapivat, 33% met the goal of reduction in transfusion burden. This included 22% of patients who didn’t require transfusions during the final 24 weeks of treatment.

Read the Full Press Release on the FDA Approval of Mitapivat HERE

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