Clinical Trial to Evaluate the Efficacy of Gene Therapy for Pyruvate Kinase Deficiency (NCT06422351) | Clinical Trial Compass
SuspendedPhase 2
Clinical Trial to Evaluate the Efficacy of Gene Therapy for Pyruvate Kinase Deficiency
Stopped: Initiation of study has been paused, but may re-start in the future.
United States, Spain10 participantsStarted 2026-04
Plain-language summary
This is an open-label Phase II trial to evaluate the efficacy of a hematopoietic cell-based gene therapy for patients with Pyruvate Kinase Deficiency (PKD).
Who can participate
Age range8 Years – 55 Years
SexALL
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion criteria
✓. Pyruvate Kinase Deficiency (PKD) diagnosis with a confirmed PK-LR mutation
✓. Significant anemia defined as:
✓. at least 6 Red Blood Cell (RBC) transfusion episodes over the 12- month period prior to screening or
✓. at least 3 Red Blood Cell (RBC) transfusion episodes each year for 2 years prior to screening; or
✓. Subject age: age ≥8 years and ≤55 years
✓. Prior splenectomy
Exclusion criteria
✕. Availability of detailed medical records, including accurate transfusion history and blood count assessments, for the prior 2 years
✕. Willing and able to read and correctly understand the patient information sheet and provide consent (or informed assent for minors) regarding study participation, willing and able to comply with all study-related procedures including follow-up visits.
✕. Negative serum pregnancy test for female subjects of childbearing potential.
✕. Presence of other known causes of hemolysis (in addition to Pyruvate Kinase Deficiency (PKD)). Patients with concurrent G6PD deficiency diagnosed during pre-study evaluation may be considered for eligibility if in the opinion of the Investigator, the hemolytic anemia is the result of PKD and the Glucose-6-phosphate dehydrogenase (G6PD) deficiency is considered an incidental finding.
✕. A venous thromboembolic event (VTE; i.e., pulmonary embolism or deep vein thrombosis) or arteriothromboembolic event (ATE; including unstable angina, myocardial infarction, stroke or transient ischemic attack) during the prior 12 months.