Disease · MONDO_0009950

pyruvate kinase deficiency of red cells

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. pyruvate kinase deficiency of red cells. Diseases, record MONDO_0009950. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0009950

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Disease

Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.

Name: pyruvate kinase deficiency of red cells; Open Targets
Open Targets ID: MONDO_0009950; Open Targets
Other names: PK deficiency, Pyruvate Kinase Deficiency, anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient, hemolytic anaemia due to pyruvate Kinase deficiency, hemolytic anaemia due to red cell pyruvate kinase deficiency, hemolytic anemia due to pyruvate Kinase deficiency, hemolytic anemia due to red cell pyruvate kinase deficiency, pyruvate kinase deficiency of erythrocyte, pyruvate kinase deficiency of erythrocytes; Open Targets
Disease Ontology: DOID:0111077; Disease Ontology
MeSH: C564858; MeSH
NCI Thesaurus: C99037; NCI Thesaurus
Orphanet: ORPHA:766; Orphanet
Highest stage of its drugs: Phase 3, for its one drug, from ClinicalTrials.gov; Open Targets

Drugs1

The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.

Drug	ChEMBL ID	Type	Open Targets' stage	Stage reported by	Reports	Of them trials	Trials shown here
MITAPIVAT	CHEMBL4299940	Small molecule	Phase 3	ClinicalTrials.gov	7	6	6

Source Drugs and targets

Targets1

The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.

Target	Protein	Its drugs that act on it	Mechanisms	Highest stage of those drugs	Gene in Genes
PKLR	Pyruvate kinase PKLR	1	Pyruvate kinase isozymes R/L activator	Phase 3	https://conductscience.org/library/genes/5313

Source Drugs and targets

Trials6

Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT03853798	Extension Study of AG-348 in Adult Participants With Pyruvate Kinase Deficiency Previously Enrolled in AG-348-006 or AG348-C-007	Phase 3	90	2025-11-18	Pyruvate Kinase Deficiency	MITAPIVAT	Its record names the disease	ClinicalTrials.gov
NCT03548220	A Study to Evaluate Efficacy and Safety of AG-348 in Not Regularly Transfused Adult Participants With Pyruvate Kinase Deficiency (PKD)	Phase 3	80	2022-05-24	Pyruvate Kinase Deficiency, Anemia, Hemolytic	MITAPIVAT	Its record names the disease	ClinicalTrials.gov
NCT02476916	A Study of AG-348 in Adult Participants With Pyruvate Kinase (PK) Deficiency	Phase 2	52	2020-06-11	Pyruvate Kinase Deficiency	MITAPIVAT	Its record names the disease	ClinicalTrials.gov
NCT03559699	A Study Evaluating the Efficacy and Safety of AG-348 in Regularly Transfused Adult Participants With Pyruvate Kinase Deficiency (PKD)	Phase 3	27	2021-12-10	Pyruvate Kinase Deficiency, Anemia, Hemolytic	MITAPIVAT	Its record names the disease	ClinicalTrials.gov
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	Phase 3	49		Pediatric Pyruvate Kinase Deficiency, Pediatric Hemolytic Anemia	MITAPIVAT	Its record names the disease	ClinicalTrials.gov
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	Phase 3	30		Pediatric Pyruvate Kinase Deficiency, Pediatric Hemolytic Anemia	MITAPIVAT	Its record names the disease	ClinicalTrials.gov

Comparisons in its trials2

Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.

Comparison	Group 1, with the outcome	Group 2, with the outcome	Participants	Trial	Source
AG-348 50 mg BID vs AG-348 300 mg BID: deaths from any cause	0 of 27	0 of 25	52	NCT02476916	Trial comparisons
AG-348 50 mg BID vs AG-348 300 mg BID: serious adverse events	5 of 27	3 of 25	52	NCT02476916	Trial comparisons

Papers from its trials7

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

PMID	Listed as	Trials listing it	Source
31483964	RESULT	1	PubMed
38330179	DERIVED	2	PubMed
37943362	DERIVED	1	PubMed
36594181	DERIVED	3	PubMed
35988546	DERIVED	1	PubMed
35417638	DERIVED	1	PubMed
31974203	DERIVED	4	PubMed

Data dates

The date of each source this release read.

Open Targets: 2026-09-18; Open Targets
Drug links and their checks, from Drugs and targets: 2026-09-18; Drugs and targets
ClinicalTrials.gov, from Trials: 2026-11-12; Trials
Comparisons, from Trial comparisons: 2026-03-23; Trial comparisons
PubMed, for the checks: 2026-11-06; PubMed
MeSH, for the checks: 2026-11-10; MeSH

Sources 6

ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
NLM's MeSHNLM's terms
Open TargetsCC0 1.0
PubMedNLM's terms

Each source's terms

ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
NLM's MeSHNLM's
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PubMedNLM's terms

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this disease from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/diseases/v1/MONDO_0009950

GET https://conductscience.org/api/diseases/v1/MONDO_0009950/drugs

API reference For AI assistants