RecruitingNCT06213402
Blood
Pyruvate Kinase Deficiency
Also known as PKD, hemolytic anemia due to PK deficiency
Pyruvate kinase deficiency is the most common hereditary red cell glycolytic enzymopathy, caused by biallelic mutations in the PKLR gene encoding red blood cell pyruvate kinase, an enzyme critical for ATP generation in erythrocytes via the
ORPHA:766 ↗Gene PKLRPrevalence Estimated 1 in 20,000 in predominantly European populations; may be underdiagnosed globallyOnset Neonatal period or infancyAutosomal recessive
1
studies recruiting now
as of 7 Sept 2026
17
studies registered in total
as of 7 Sept 2026
1
countries with a recruiting site
as of 7 Sept 2026
19 Jan 2024
most recent study posted
among recruiting studies
Recruiting trials
Showing the 1 most recently updated recruiting study, as recorded 7 Sept 2026. Live status on each study page.
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About Pyruvate Kinase Deficiency
Pyruvate kinase deficiency is the most common hereditary red cell glycolytic enzymopathy, caused by biallelic mutations in the PKLR gene encoding red blood cell pyruvate kinase, an enzyme critical for ATP generation in erythrocytes via the Embden-Meyerhof glycolytic pathway. Reduced ATP production leads to impaired red cell membrane integrity, premature splenic sequestration and destruction, and chronic non-spherocytic hemolytic anemia of variable severity. Severity ranges from mild compensated hemolysis to transfusion-dependent anemia requiring splenectomy or, in severe cases, hematopoietic stem cell transplantation, with the first oral PK activator (mitapivat) approved in 2022.
Common clinical features
Chronic non-spherocytic hemolytic anemiaNeonatal jaundice often requiring phototherapy or exchange transfusionSplenomegaly from splenic sequestrationPallor and chronic fatigueCholelithiasis from chronic hemolysis and bilirubin gallstonesGrowth retardation in severe childhood casesIron overload from transfusions and increased gastrointestinal absorptionParadoxical reticulocytosis post-splenectomy
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Pyruvate Kinase Deficiency. Not eligibility rules; those are set by each study.
- Molecular confirmation of biallelic PKLR mutations and baseline pyruvate kinase enzyme activity assay in red cells are essential for trial enrollment; results must typically be obtained from a reference laboratory.
- Transfusion dependence (number of transfusions per year), splenectomy status, and hemoglobin levels pre- and post-splenectomy are key stratification criteria in mitapivat and gene therapy trials.
- Hemolytic markers (LDH, indirect bilirubin, reticulocyte count, haptoglobin) measured at a stable baseline without recent illness or transfusion are used as primary endpoints and should be documented.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).