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pyruvate kinase deficiency of red cells - Clinical Profile, Treatments & Trials | Kisho | Kisho

Features include always present findings: Reduced haptoglobin level, Decreased hemoglobin concentration, Pallor, and Ongoing breakdown of red blood cells (chronic hemolytic anemia) and others; and sometimes findings: Nonimmune hydrops fetalis and Intrauterine growth retardation. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	4	Decreased hemoglobin concentration, Ongoing breakdown of red blood cells (chronic hemolytic anemia), Increased immature red blood cells (reticulocytosis)
Digestive system	4	Enlarged liver (hepatomegaly), Cholelithiasis, Enlarged spleen (splenomegaly)
Pregnancy and birth	1	Nonimmune hydrops fetalis
Lab test results	1	High bilirubin levels (unconjugated hyperbilirubinemia)
Growth and development	1	Intrauterine growth retardation

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

1 FDA-approved treatment is available for pyruvate kinase deficiency of red cells, including MITAPIVAT (PYRUKYND, approved 2022). An additional 2 compounds hold orphan drug designation.

Approved Therapies

Brand Name	Generic Name	Mechanism	Approved	Market Status
PYRUKYND	MITAPIVAT	Activates Pyruvate kinase PKLR	2022	Available

Orphan Drug Designations

The following drugs have received orphan drug designation from the FDA for pyruvate kinase deficiency of red cells. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor	Designated	Exclusivity End	Designation Status
Autologous CD34+ cells edited with CRISPR/Cas9 and transduced with an adeno-associated virus vector serotype 6 containing the codon-optimized version of PKLR gene	Autologous CD34+ cells edited with CRISPR/Cas9 and transduced with an adeno-associated virus vector serotype 6 containing the codon-optimized version of PKLR gene	Consorcio Centro de Investigación Biomédica en Red (CIBER)	2023	—	Designated
lentiviral vector containing the human liver and erythroid pyruvate kinase gene	lentiviral vector containing the human liver and erythroid pyruvate kinase gene	Rocket Pharmaceuticals, Inc.	2016

Adverse Event Profiles

FDA adverse event reports (FAERS) include all outcomes reported during treatment and do not establish causation. Report counts reflect all approved indications for each drug, not only this disease.

708 adverse event reports have been filed with the FDA for MITAPIVAT (across all indications). Most commonly reported: nausea, abdominal pain upper, and atrial fibrillation.

Gene therapy approaches for pyruvate kinase deficiency of red cells have been reported in the published literature.

Clinical Trials

7 trials found

Explore Trials

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

7 clinical trials registered. Interventions under study include drug therapy and other interventions. Pipeline includes 1 PHASE4, 2 PHASE3, 1 PHASE2. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT05144256](https://clinicaltrials.gov/study/NCT05144256)	A Study to Evaluate the Efficacy and Safety of Mitapivat in Pediatric Participants With Pyruvate Kinase Deficiency (PKD) Who Are Regularly Transfused, Followed by a 5-Year Extension Period	PHASE3	Agios Pharmaceuticals, Inc.	ACTIVE_NOT_RECRUITING
[NCT04902833](https://clinicaltrials.gov/study/NCT04902833)	Acquired Pyruvate Kinase Deficiency In Clonal Myeloid Neoplasms	—	Massachusetts General Hospital	UNKNOWN
[NCT05777993](https://clinicaltrials.gov/study/NCT05777993)	A Study to Provide Access to Mitapivat for Participants Who Previously Participated in an Agios-Sponsored Mitapivat Study	PHASE4	Agios Pharmaceuticals, Inc.	ENROLLING_BY_INVITATION
[NCT05175105](https://clinicaltrials.gov/study/NCT05175105)	A Study to Evaluate the Efficacy and Safety of Mitapivat in Pediatric Participants With Pyruvate Kinase Deficiency (PKD) Who Are Not Regularly Transfused, Followed by a 5-Year Extension Period	PHASE3	Agios Pharmaceuticals, Inc.	ACTIVE_NOT_RECRUITING
[NCT03481738](https://clinicaltrials.gov/study/NCT03481738)	Pyruvate Kinase Deficiency Global Longitudinal Registry	—	Agios Pharmaceuticals, Inc.	ACTIVE_NOT_RECRUITING

57 publications have been identified in PubMed for pyruvate kinase deficiency of red cells. Research spans Case Report / Case Series (23%), Basic Science / Preclinical (23%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Patient case studies	13	23%
Laboratory research	13	23%
Research summaries	9	16%
Disease patterns and progression	8	14%
Clinical study results	5	9%
New treatment approaches	4

Recent Publications

Sakalian O (2026). [PMID: 42115487](https://pubmed.ncbi.nlm.nih.gov/42115487/). *Ann Hematol*. [Case Report / Case Series]
McLay B (2026). [PMID: 42051971](https://pubmed.ncbi.nlm.nih.gov/42051971/). *Case Rep Anesthesiol*. [Case Report / Case Series]
Wang W (2026). [PMID: 42130359](https://pubmed.ncbi.nlm.nih.gov/42130359/). *Zhongguo Dang Dai Er Ke Za Zhi*. [Case Report / Case Series]
Doeven T (2026). [PMID: 41833294](https://pubmed.ncbi.nlm.nih.gov/41833294/). *Lancet*. [Review / Meta-Analysis]
Chan WYK (2026). [PMID: 41176032](https://pubmed.ncbi.nlm.nih.gov/41176032/). *Transplant Cell Ther*. [Clinical Trial Publication]
Wang X (2026). [PMID: 41557517](https://pubmed.ncbi.nlm.nih.gov/41557517/). *JCI insight*. [Basic Science / Preclinical]
Enegela OA (2026). [PMID: 32809416](https://pubmed.ncbi.nlm.nih.gov/32809416/). *Unknown Journal*. [Review / Meta-Analysis]
O'Hanlon Cohrt K (2026). [PMID: 42074029](https://pubmed.ncbi.nlm.nih.gov/42074029/). *Int J Mol Sci*. [Review / Meta-Analysis]
Bhayana S (2026). [PMID: 41796426](https://pubmed.ncbi.nlm.nih.gov/41796426/). *Pediatr Transplant*. [Other]
Rafat M (2026). [PMID: 40964792](https://pubmed.ncbi.nlm.nih.gov/40964792/). *International journal of laboratory hematology*. [Epidemiology / Natural History]

Kisho

pyruvate kinase deficiency of red cells

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Treatment

Approved Therapies

Orphan Drug Designations

Adverse Event Profiles

Clinical Trials

Prognosis

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

pyruvate kinase deficiency of red cells

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Treatment

Approved Therapies

Orphan Drug Designations

Adverse Event Profiles

Clinical Trials

Prognosis

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team