YOUR HEALTH: New therapy for PKD saves Bill’s blood

Regular blood transfusions have been the primary treatment for people with PK deficiency, until now.
Published: Mar. 16, 2023 at 6:15 AM CDT|Updated: Mar. 16, 2023 at 6:44 AM CDT
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BOSTON, Mass. (Ivanhoe Newswire) - PK deficiency is a genetic blood disorder that causes red blood cells to die prematurely. Regular blood transfusions have been the primary treatment for people with PK deficiency, until now.

Bill Pitchforth loves to be at home in the kitchen. He’s a trained pastry chef. But Pitchforth has had his share of medical challenges. He was born without one eye.

“I got more smiles from the girls with the patch than I ever did with a prosthetic,” Pitchforth boasts.

But during treatment for melanoma on his cheek fifteen years ago, doctors detected another serious, unrelated health problem.

Pitchforth says, “They were testing my blood to see what was going on, and they couldn’t figure out what was wrong.”

Pitchforth’s red blood cell count was dangerously low. Doctors determined he had the genetic condition pyruvate kinase deficiency or PKD.

“We’re gonna have to give you blood transfusions for the rest of your life,” he remembers the doctors telling him.

Massachusetts General Cancer Center hematologist, Hanny Al-Samkari, MD explains, “The iron overload that these patients have from the red blood cells breaking up in the bloodstream can lead to liver failure, liver cancer, and heart failure and sudden cardiac death.”

But doctors recruited Bill for a clinical trial of a pill called mitapivat, now known as Pyrukynd. The medication targets an enzyme that doesn’t work normally in PKD patients.

“We have patients receiving mitapivat that have had dramatic improvements in their blood counts or even normalization of the blood counts,” Dr. Al-Samkari adds.

Pitchforth’s energy started to come back slowly. Now that the drug is FDA-approved, doctors say he’ll stay on it for the long-term.

“I’m feeling great,” Pitchforth exclaims.

Now that Pyrukynd is FDA-approved, it’s typically covered by Medicare and Medicaid, and Dr. Al-Samakri says he expects private insurance companies to follow suit. Dr. Al-Samkari was a lead researcher in the drug trials, and it’s important to note that he remains a consultant with Agios, the company that developed the new medication.

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