Pyrukynd ushers in new era for rare cellular metabolic disease

The approval of the first oral pill to treat a rare anemia heralds the arrival of a new class of agents that could shake up enzyme replacement therapies for metabolic disease.

Excerpt from the Press Release:

The US approval in February of Agios Pharmaceuticals’ Pyrukynd (mitapivat) for pyruvate kinase deficiency (PKD) is a first on two levels: it is the first approved disease-modifying therapy approved for an inherited hemolytic anemia and the first approved small molecule against a rare metabolic disease that acts by an allosteric mechanism.

Agios was founded in 2008 with an early focus on cancer metabolism. It launched two cancer drugs, Idhifa (enasidenib) in 2017 and Tibsovo (ivosidenib) one year later. In 2021, however, the company shifted direction, selling its oncology portfolio to the pharma Servier, based in Suresnes, France, for $1.8 billion. Agios then turned its focus to rare diseases, in particular inherited metabolic disorders caused by a single-gene defect.

Pyrukynd activates the enzyme that is deficient in PKD — erythrocyte pyruvate kinase R (PKR) — which affects erythrocyte metabolism and whose absence leads to premature cell death and anemia. The therapeutic agent tackles a defect in red blood cells’ ability to produce energy. Erythrocytes have an unusual metabolism: they rely on anaerobic glycolysis to produce ATP, unlike other mammalian cells, which can generate ATP from aerobic metabolism.

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