Agios wins FDA approval for pill to treat rare blood disease

The Cambridge company’s CEO says the medicine for people with pyruvate kinase deficiency has the potential to become a blockbuster drug.

Federal regulators have approved the first medicine for people with pyruvate kinase deficiency, a rare blood disorder.

Thursday’s decision by the Food and Drug Administration marks a pivotal moment for Cambridge-based Agios Pharmaceutical as it turns a corner after a successful — but costly — run at developing cancer drugs. Chief executive Jackie Fouse said she hopes the pill ― to be sold under the brand name Pyrukynd ― will become a blockbuster, with annual sales of more than $1 billion, if it is eventually approved for two other blood disorders.

Like most drugs for rare diseases, Pyrukynd (pronounced “pie-roo-kind”) comes with a hefty price tag. In a call with investors Friday morning, Agios said it will cost $334,880 annually.

Pyruvate kinase, or PK, deficiency, is a hereditary blood disorder that causes red blood cells to break down too quickly. People with the disease often experience fatigue, yellowing of the skin or whites of the eyes, and shortness of breath.

Under the current standard of care, some patients must have their spleen removed or undergo regular blood transfusions to increase their red blood cell count. But the Agios pill, taken twice daily, aims to reactivate the enzyme that helps red blood cells create energy, with the goal of making them last longer.

Agios demonstrated in two studies that its drug worked in about 40 percent of patients.

“When I have a patient that goes from having half of the red blood cells they normally should have ... and you give them a medication that basically makes them look like an individual with no evidence of red cell breakdown ... that’s really remarkable,” said Dr. Hanny Al-Samkari, a hematologist and clinical investigator at the Mass General Cancer Center, who was the principal investigator for one of the Agios trials.

More studies are needed, Al-Samkari said, but the hope is that the immediate benefits of the drug will also help patients overcome long-term complications of the disease.

Kim Hall, 52, a registered nurse who lives outside of Pittsburgh, was born with PK deficiency, as were two of her daughters, Marissa, 24, and Lauryn, 20. Hall said that beyond the physical symptoms of the disease, all three have experienced psychological effects, such as feeling self-conscience about their yellowish skin tone.

Hall and her daughters participated in Agios’s clinical trials and have access to the drug.

“We could see our skin tone start to change,” Hall said. “We felt our activity level tolerance increase ... being able to go up and down steps and not get winded.”

Her daughter Marissa is now working long hours on film sets in Pittsburgh and looking forward to riding her bike more often. Lauryn is able to walk around her college campus without taking breaks when walking up hills, and even goes on occasional runs.

“As a mom, knowing that my daughters will be able to go through their adult lives, and not have the same struggles that I did ... it’s nothing less than a miracle for all of us,” Kim said.

Fouse, a Celgene veteran, took the helm of Agios in 2019, replacing longtime chief executive David Schenkein.

Jackie Fouse, the chief executive officer of Agios Pharmaceuticals in Cambridge.

She spent her first year figuring out how a company that started in 2008 with a “blank sheet of paper” to explore cellular metabolism wound up largely focused on developing cancer drugs — and deciding whether that should continue. Because the cancer landscape had evolved since the company was founded — with an increasing focus on the immune system — she thought the company’s work in blood disorders would have a greater chance of differentiating and sustaining the company.

An Agios cofounder even told her that she should consider steering the company “outside of oncology.”

“We were spending a lot of money, trying to do cancer and non-cancer,” Fouse said. “We really had too many things that we could do.”

Agios sold its oncology business last year, along with its only approved drugs, for up to $2 billion. Fouse said the company now has $1.3 billion in the bank to propel its blood disorder programs, and it expects to be cash-flow positive by 2026.

Early studies suggest the PK deficiency drug could potentially work for thalassemia and sickle cell disease, more common blood disorders.

When Agios sold its cancer business to Servier Pharmaceuticals, based in Boston’s Seaport District, it lost 40 percent of its 500-person staff to Servier. Fouse said Agios now has around 400 employees and plans to reach 500 again by the end of the year.