Pyruvate Kinase Deficiency Clinical Trials and Treatments

Red blood cells have no mitochondria, so they rely on a chain of enzymes to make the energy (ATP) that keeps them flexible and intact. Pyruvate kinase is a key link in that chain. When a PKLR gene change weakens it, red cells run short of energy and are destroyed early, mostly in the spleen.

The most common symptoms of Pyruvate Kinase Deficiency include Tiredness, pale skin and shortness of breath from anemia, Yellow skin or eyes (jaundice), Gallstones, found in 45% of people in one registry, An enlarged spleen, Iron overload, even without transfusions, found in 48% of people in the same registry. About 3.2 to 8.5 diagnosed people per million in Western populations, and possibly up to 51 per million counting people not yet diagnosed (Secrest et al. 2020, a review funded by Agios). Symptoms can range from mild to severe and may vary between individuals.

Trial Friend lists all active clinical trials for Pyruvate Kinase Deficiency from ClinicalTrials.gov, with eligibility criteria translated into plain English. Patients can filter by trial phase and recruitment status, search by location, and use the Match Me tool to score trials against their profile. As of October 2026, ClinicalTrials.gov lists no recruiting treatment trials for PK deficiency.

Yes. As of September 2026, Trial Friend lists 1 FDA-approved drug used to treat Pyruvate Kinase Deficiency: Pyrukynd (mitapivat), first approved in 2022.

Each has its own page with what the label covers, side effects and how it is given, and the Treatments section of this page adds any further approved drugs found in FDA labeling data.

Pyruvate Kinase Deficiency is caused by variants in the PKLR gene.

It is inherited in an autosomal recessive pattern: both parents are usually unaffected carriers, and each pregnancy has a 1 in 4 chance of an affected child. About 3.2 to 8.5 diagnosed people per million in Western populations, and possibly up to 51 per million counting people not yet diagnosed (Secrest et al. 2020, a review funded by Agios). Genetic testing confirms the diagnosis.

Yes. Genetic testing for Pyruvate Kinase Deficiency looks at the PKLR gene.

It is inherited in an autosomal recessive pattern: both parents are usually unaffected carriers, and each pregnancy has a 1 in 4 chance of an affected child.

A confirmed variant establishes the diagnosis and is often required to enroll in gene-specific trials. The labs currently offering the test are listed in the Genetic Testing section of this page, pulled live from the NIH Genetic Testing Registry. A genetic counselor can help interpret the result and decide which relatives should be tested.

Eligibility for Pyruvate Kinase Deficiency clinical trials depends on factors like age, diagnosis, treatment history, and overall health. Each trial sets its own inclusion and exclusion criteria. Trial Friend translates these requirements from medical language into plain English so patients can review them more easily. The Match Me tool can score your profile against active trials to help identify studies that may be a fit.

Participating in a Pyruvate Kinase Deficiency clinical trial typically involves scheduled visits, medical tests, and close monitoring by a research team. Depending on the study phase, you may receive an investigational treatment, a placebo, or the current standard of care. Trials may last from a few weeks to several years. Study participation is voluntary, and you can withdraw at any time.