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FDA Approves Pyrukynd as First Treatment for Pyruvate Kinase Deficiency

• The FDA has approved mitapivat (Pyrukynd) as the first treatment for adults with pyruvate kinase (PK) deficiency, a rare inherited anemia. • Pyrukynd, a small molecule, works by activating PK enzymes to improve red blood cell function, offering a new approach to managing this condition. • Clinical trials demonstrated that Pyrukynd significantly increased hemoglobin levels in non-transfusion-dependent patients and reduced transfusion burden in regularly transfused patients. • Agios Pharmaceuticals, now focused on rare genetic diseases, estimates that many PK deficiency cases remain undiagnosed, highlighting the need for increased awareness and testing.

The U.S. Food and Drug Administration (FDA) has granted approval to Pyrukynd (mitapivat) as the first drug specifically designed to treat adults with pyruvate kinase (PK) deficiency, a rare inherited form of anemia. This approval marks a significant advancement for patients who currently have limited treatment options.

Mechanism of Action and Clinical Efficacy

Pyrukynd is a small molecule that functions by binding to PK enzymes, thereby increasing their activity. PK deficiency leads to hemolytic anemia, where red blood cells are destroyed faster than they can be produced. The drug's approval was based on the outcomes of two Phase 3 clinical trials. In a 24-week, double-blind, placebo-controlled study involving 80 adults who were not regularly receiving blood transfusions, Pyrukynd met its primary endpoint by demonstrating a statistically significant increase in hemoglobin levels. An additional 40-week, single-arm study focused on 27 adults who receive regular blood transfusions. Results showed that 33% of participants achieved a reduction in transfusion burden, with 22% requiring no transfusions during the final 24 weeks of the trial.

Impact on Patient Care

For patients with PK deficiency, anemia is often managed with blood transfusions, which can lead to complications such as iron overload, gallstones, and enlarged spleen. According to Richa Poddar, Chief Commercial Officer at Agios, "Since 1961, when the first PKD patient was identified, there has been no treatment options available. Pyrukynd is the first one."

Safety Profile and Considerations

Common side effects observed in clinical trials included decreased levels of estrone and estradiol (types of estrogen hormones) in men, increased urate levels, back pain, and joint stiffness. The drug's label advises caution for individuals with liver problems. While the effects on estrone and estradiol in women could not be reliably assessed due to hormonal fluctuations, monitoring remains important.

Agios's Strategic Shift and Future Directions

Agios Pharmaceuticals, based in Cambridge, Massachusetts, previously focused on cancer drugs before shifting its strategy to rare genetic diseases. The sale of its oncology business to Servier for $1.8 billion enabled this transition. Pyrukynd represents Agios's first FDA approval under this new strategic direction. The company estimates that approximately 3,000 individuals in the U.S. have PK deficiency, with a significant portion remaining undiagnosed. Additional trials are planned to evaluate Pyrukynd in children with PK deficiency and explore its potential in other conditions like alpha and beta thalassemia, and sickle cell disease.

Pricing and Availability

The average annual wholesale cost of Pyrukynd is $334,880 before rebates or discounts. Agios has committed to maintaining this price for five years. The drug is also under regulatory review in Europe.
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Reference News

[1]
Agios strategy shift pays off with FDA approval of first drug for rare ...
medcitynews.com · Apr 2, 2024

Agios Pharmaceuticals shifted focus to rare genetic diseases, leading to FDA approval of Pyrukynd, the first treatment f...

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