FDA approval of first disease-modifying drug for treatment of rare lifelong anaemia

pharmafile | February 21, 2022 | News story | Sales and Marketing  

Agios Pharmaceuticals has announced the FDA approval of Pyrukynd (mitapivat), for the treatment of haemolytic anaemia in adults with pyruvate kinase (PK) deficiency, a rare, lifelong haemolytic anaemia. This marks is the first approved disease-modifying treatment for disease.

The FDA’s approval was based off results from two pivotal studies, ACTIVATE and ACTIVATE-T, which were conducted in not regularly transfused and regularly transfused adults with PK deficiency, respectively.

PK deficiency is an inherited metabolic disorder of the enzyme pyruvate kinase, which affects the survival of red blood cells. Without this enzyme, red blood cells break down too easily, resulting in haemolytic anaemia. It is a rare disease in which symptoms may greatly vary, but include jaundice, enlargement of the spleen, and mild or severe haemolysis – the breakdown of red blood cells – which leads to anaemia.

The inherited mutation in the PKLR gene may cause huge deficits in red blood cells. It can also lead to serious complications, including osteoporosis, gallstones, extramedullary haematopoiesis, pulmonary hypertension and iron overload.

“The successful ACTIVATE and ACTIVATE-T studies demonstrate the impact of mitapivat in significantly improving haemolysis and anaemia in PK deficiency,” said Hanny Al-Samkari, haematologist and clinical investigator at the Mass General Cancer Centre and Harvard Medical School, and an investigator in these pivotal phase 3 studies. “The FDA approval of mitapivat, a targeted agent and first disease-modifying medication in PK deficiency, is an encouraging step forward for these patients that addresses a significant unmet need.”

People with PK deficiency often experience poor quality of life. Treatments are available for the disease, but they come with short-term and long-term risks. In the ACTIVATE clinical trial, 40% of participants reported improved haemoglobin response (the primary endpoint), compared to zero patients in the placebo group. The trial also achieved its secondary endpoints of ineffective erythropoiesis and markers of haemolysis.

Ana Ovey

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