Pyruvate kinase deficiency of red cells
MONDO:0009950A rare, genetic metabolic disorder due to pyruvate kinase deficiency characterized by a variable degree of chronic nonspherocytic hemolytic anemia resulting in a variable clinical manifestations ranging from fatal anemia at birth to a to a fully compensated hemolysis without apparent anemia.
Also known as: PK deficiency, Pyruvate Kinase Deficiency, anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient, hemolytic anaemia due to pyruvate Kinase deficiency, hemolytic anaemia due to red cell pyruvate kinase deficiency, hemolytic anemia due to pyruvate Kinase deficiency, hemolytic anemia due to red cell pyruvate kinase deficiency, pyruvate kinase deficiency
31 clinical trials for this condition and its sub-types.
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Could a daily pill help kids with rare blood disorder?
Disease control OngoingThis study tests a drug called mitapivat in children aged 1 to 18 with pyruvate kinase deficiency, a rare genetic condition that causes red blood cells to break down too quickly, leading to anemia. The trial compares mitapivat to a placebo to see if it can raise hemoglobin levels…
Phase 3 • Sponsor: Agios Pharmaceuticals, Inc. • Aim: Disease control
Last updated Aug 29, 2026 00:00 UTC
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Could a pill replace blood transfusions for kids with rare anemia?
Disease control OngoingThis phase 3 trial tests the drug mitapivat in children aged 1 to 18 with pyruvate kinase deficiency, a rare genetic disorder that causes red blood cells to break down too quickly. These children need regular blood transfusions. The study compares mitapivat to a placebo to see if…
Phase 3 • Sponsor: Agios Pharmaceuticals, Inc. • Aim: Disease control
Last updated Aug 29, 2026 00:00 UTC
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Lifeline drug mitapivat keeps flowing for rare blood disorder patients
Disease control By invitation onlyThis study offers continued access to the drug mitapivat for adults with pyruvate kinase deficiency who completed an earlier Agios-sponsored trial and cannot get the drug commercially. Only 6 participants are enrolled, and the main goal is to monitor side effects. The study does …
Phase 4 • Sponsor: Agios Pharmaceuticals, Inc. • Aim: Disease control
Last updated Aug 14, 2026 00:00 UTC
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Gene therapy offers hope for rare blood disorder
Disease control PausedThis study tests a gene therapy for people with pyruvate kinase deficiency, a rare blood disorder causing severe anemia. Ten participants will receive their own blood stem cells modified with a healthy gene to help produce normal red blood cells. The goal is to raise hemoglobin l…
Phase 2 • Sponsor: Rocket Pharmaceuticals Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:08 UTC
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New blood treatment could block zika in transfusions
Disease control OngoingThis study tests a special treatment for red blood cells that aims to kill the Zika virus, making transfusions safer. About 692 people who need blood transfusions will receive either treated or standard blood. The goal is to see if the treated blood works just as well and is safe…
Phase 3 • Sponsor: Cerus Corporation • Aim: Disease control
Last updated Jun 27, 2026 11:03 UTC
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Global registry launches to unlock secrets of rare blood disorder
Knowledge-focused OngoingThis study is a global registry that will follow about 500 people with pyruvate kinase (PK) deficiency, a rare inherited anemia, for up to 9 years. Researchers will collect medical data to better understand the disease's natural history, treatments, and complications. No new drug…
Sponsor: Agios Pharmaceuticals, Inc. • Aim: Knowledge-focused
Last updated Aug 29, 2026 00:00 UTC