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
33 clinical trials for this condition and its sub-types, 10 tagged with Pyruvate kinase deficiency of red cells itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →-
Promising new drug shows hope for rare anemia patients
Disease control CompletedThis study tested a drug called mitapivat (AG-348) in 52 adults with pyruvate kinase deficiency, a rare genetic condition that causes red blood cells to break down too quickly, leading to anemia. The goal was to see if different doses of the drug are safe and help control the dis…
Phase 2 • Sponsor: Agios Pharmaceuticals, Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:28 UTC
-
New hope for rare blood disorder: Long-Term drug study shows promise
Disease control CompletedThis study looked at the long-term safety and effectiveness of the drug mitapivat in 90 adults with pyruvate kinase deficiency, a rare genetic blood disorder that causes red blood cells to break down too quickly. Participants had already completed earlier studies of mitapivat and…
Phase 3 • Sponsor: Agios Pharmaceuticals, Inc. • Aim: Disease control
Last updated Jun 27, 2026 07:58 UTC
-
Gene therapy offers hope for rare blood disorder
Disease control CompletedThis phase 1 trial tested a gene therapy called RP-L301 in 4 people with pyruvate kinase deficiency, a rare inherited blood disorder that causes severe anemia and often requires frequent blood transfusions. The treatment uses the patient's own blood stem cells, which are modified…
Phase 1 • Sponsor: Rocket Pharmaceuticals Inc. • Aim: Disease control
Last updated Jun 26, 2026 13:53 UTC
-
Blood cancer enzyme deficiency explored in new study
Knowledge-focused CompletedThis study looked at how often people with certain blood cancers or related conditions have an acquired deficiency of an enzyme called pyruvate kinase, which can cause anemia. Researchers took a single blood sample from 18 participants to measure enzyme activity and check for rel…
Sponsor: Massachusetts General Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:35 UTC