Pyruvate metabolism disorder
MONDO:0016789An inherited metabolic disease that is has its basis in the disruption of pyruvate metabolic process.
Also known as: inborn error of pyruvate metabolic process, inborn pyruvate metabolic process disorder, rare inborn error of pyruvate metabolic process
31 clinical trials for this condition and its sub-types, 0 tagged with Pyruvate metabolism disorder itself.
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Sub-types of Pyruvate metabolism disorder
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Disorder of glycolysis 1 trial · 27 incl. sub-types
16 sub-types
- Maturity-onset diabetes of the young 8 trials · 13 incl. sub-types Sub-types →
- Pyruvate kinase deficiency of red cells 10 trials
- Permanent neonatal diabetes mellitus 2 trials Sub-types →
- Glycogen storage disease VII 1 trial
- Glycogen storage disease due to aldolase A deficiency 1 trial
- Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 1 trial
- Glycogen storage disease due to muscle beta-enolase deficiency 1 trial
- Glycogen storage disease due to phosphoglycerate mutase deficiency 1 trial
- Charcot-Marie-Tooth disease type 4G 0 trials
- Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency 0 trials
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 trials
- Hemolytic anemia due to glucophosphate isomerase deficiency 0 trials
- Hyperinsulinemic hypoglycemia, familial, 3 0 trials
- Lactic aciduria due to D-lactic acid 0 trials
- Non-spherocytic hemolytic anemia due to hexokinase deficiency 0 trials
- Triosephosphate isomerase deficiency 0 trials
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Pyruvate dehydrogenase deficiency 2 trials · 4 incl. sub-types
7 sub-types
- Pyruvate dehydrogenase E1-alpha deficiency 2 trials
- Pyruvate dehydrogenase E3 deficiency 1 trial
- Lipoic acid synthetase deficiency 0 trials
- Pyruvate dehydrogenase E1-beta deficiency 0 trials
- Pyruvate dehydrogenase E2 deficiency 0 trials
- Pyruvate dehydrogenase E3-binding protein deficiency 0 trials
- Pyruvate dehydrogenase phosphatase deficiency 0 trials
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Pyruvate kinase hyperactivity 0 trials
Most studied deeper sub-types
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Could a daily pill help kids with rare blood disorder?
Disease control OngoingThis study tests a drug called mitapivat in children aged 1 to 18 with pyruvate kinase deficiency, a rare genetic condition that causes red blood cells to break down too quickly, leading to anemia. The trial compares mitapivat to a placebo to see if it can raise hemoglobin levels…
Phase 3 • Sponsor: Agios Pharmaceuticals, Inc. • Aim: Disease control
Last updated Aug 29, 2026 00:00 UTC
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Could a pill replace blood transfusions for kids with rare anemia?
Disease control OngoingThis phase 3 trial tests the drug mitapivat in children aged 1 to 18 with pyruvate kinase deficiency, a rare genetic disorder that causes red blood cells to break down too quickly. These children need regular blood transfusions. The study compares mitapivat to a placebo to see if…
Phase 3 • Sponsor: Agios Pharmaceuticals, Inc. • Aim: Disease control
Last updated Aug 29, 2026 00:00 UTC
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Lifeline drug mitapivat keeps flowing for rare blood disorder patients
Disease control By invitation onlyThis study offers continued access to the drug mitapivat for adults with pyruvate kinase deficiency who completed an earlier Agios-sponsored trial and cannot get the drug commercially. Only 6 participants are enrolled, and the main goal is to monitor side effects. The study does …
Phase 4 • Sponsor: Agios Pharmaceuticals, Inc. • Aim: Disease control
Last updated Aug 14, 2026 00:00 UTC
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Gene therapy offers hope for rare blood disorder
Disease control PausedThis study tests a gene therapy for people with pyruvate kinase deficiency, a rare blood disorder causing severe anemia. Ten participants will receive their own blood stem cells modified with a healthy gene to help produce normal red blood cells. The goal is to raise hemoglobin l…
Phase 2 • Sponsor: Rocket Pharmaceuticals Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:08 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
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Global registry launches to unlock secrets of rare blood disorder
Knowledge-focused OngoingThis study is a global registry that will follow about 500 people with pyruvate kinase (PK) deficiency, a rare inherited anemia, for up to 9 years. Researchers will collect medical data to better understand the disease's natural history, treatments, and complications. No new drug…
Sponsor: Agios Pharmaceuticals, Inc. • Aim: Knowledge-focused
Last updated Aug 29, 2026 00:00 UTC