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 range
8 Years – 55 Years
Sex
ALL
See this in plain English?
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
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
. 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.
. Evidence of bridging fibrosis, cirrhosis or active hepatitis on liver biopsy.
. Liver biopsy is required when liver iron concentration (LIC) is ≥15 mg/g on T2\* magnetic resonance imaging (MRI) of liver.
. If a liver biopsy has been performed less than 6 months prior to enrollment, it does not need to be repeated.