PKD: New Therapy Saves Bill’s Blood

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 PKD, 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.”

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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.

Contributors to this news report include: Cyndy McGrath, Producer; Kirk Manson, Videographer; Roque Correa, Editor.

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MEDICAL BREAKTHROUGHS

RESEARCH SUMMARY

TOPIC:            NEW THERAPY FOR PKD SAVES BILL’S BLOOD

REPORT:       MB #5156 

BACKGROUND: Pyruvate kinase (PK) deficiency is an inherited (autosomal recessive) red blood cell (RBC) enzyme disorder that causes chronic hemolysis. It is the second most common RBC enzyme defect but is the most common cause of chronic hemolytic anemia from an RBC enzyme deficiency. Pyruvate kinase deficiency (PKD) is the most common cause of chronic hereditary non-spherocytic hemolytic anemia, with a prevalence reported to be between 1:20,000 and 1:300,000 in Caucasian populations and a higher prevalence in areas in which malaria is endemic.

(Sources: https://www.uptodate.com/contents/pyruvate-kinase-deficiency#:~:text=Pyruvate%20kinase%20(PK)%20deficiency%20is,from%20an%20RBC%20enzyme%20deficiency.

https://www.haematologica.org/article/view/9854#:~:text=Introduction-,Pyruvate%20kinase%20deficiency%20(PKD)%20is%20the%20most%20common%20cause%20of,in%20which%20malaria%20is%20endemic.)

DIAGNOSING: The standard diagnostic test for PKD is to measure the activity of the pyruvate kinase enzyme in red blood cells. Low activity of this enzyme is indictive of the disorder. This test is only run at specialized laboratories; most clinics and hospitals send this test to be run at these specialized centers. Anemia symptoms are common with this disorder; they include weakness and fatigue, rapid heartbeat, trouble breathing, dizziness, and/or headaches. Other signs of a pyruvate kinase deficiency may include yellowish skin and eyes, enlarged spleen, dark-colored urine, gallstones, and/or iron overload.

(Sources: https://rarediseases.org/rare-diseases/pyruvate-kinase-deficiency/#:~:text=The%20standard%20diagnostic%20test%20for,run%20at%20these%20specialized%20centers.

https://my.clevelandclinic.org/health/diseases/23419-pyruvate-kinase-deficiency)

NEW TECHNOLOGY: The Food and Drug Administration approved mitapivat (Pyrukynd, Agios) to treat hemolytic anemia in adult patients with pyruvate kinase (PK) deficiency. Mitapivat is the first FDA-approved disease-modifying therapy for PK deficiency, a rare, inherited blood disorder that may cause red cell destruction. In the approval notice, FDA noted that abruptly stopping mitapivat could worsen premature red blood cell destruction.

(Source: https://www.aabb.org/news-resources/news/article/2022/02/18/fda-approves-new-treatment-for-hemolytic-anemia-in-adults-with-pk-deficiency#:~:text=The%20Food%20and%20Drug%20Administration,may%20cause%20red%20cell%20destruction.)

FOR MORE INFORMATION ON THIS REPORT, PLEASE CONTACT:

Katie Marquedant

kmarquedant@mgh.harvard.edu

If this story or any other Ivanhoe story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Marjorie Bekaert Thomas at mthomas@ivanhoe.com