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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App-Based videos aim to boost birth weights in diabetic pregnancies
Disease control CompletedThis study tested whether adding a smartphone app with short videos on mental health, diet, exercise, and insulin adjustment to standard care could improve blood sugar control and birth weight in pregnant women with diabetes. Over 600 women participated. The goal was to see if th…
Sponsor: Odense University Hospital • Aim: Disease control
Last updated Jun 27, 2026 14:00 UTC
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Promising new drug shows hope for rare anemia patients
Disease control CompletedThis study tested a drug called mitapivat (AG-348) in 52 adults with pyruvate kinase deficiency, a rare genetic condition that causes red blood cells to break down too quickly, leading to anemia. The goal was to see if different doses of the drug are safe and help control the dis…
Phase 2 • Sponsor: Agios Pharmaceuticals, Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:28 UTC
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Smart insulin pump aims to reduce dangerous lows in type 1 diabetes
Disease control CompletedThis study followed 30 adults with type 1 diabetes who used the Smartguard system, a partially automated insulin pump that can pause insulin delivery when it predicts a low blood sugar. The goal was to see how well the system works in everyday life, focusing on time spent in the …
Sponsor: University Hospital, Caen • Aim: Disease control
Last updated Jun 27, 2026 12:03 UTC
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New study tests best way to manage rare diabetes in pregnancy
Disease control CompletedThis study looked at two different ways to manage blood sugar in pregnant women with MODY2 diabetes, a genetic condition that affects insulin release. The goal was to see if using ultrasound to guide insulin treatment could prevent the baby from growing too large. 46 women took p…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Disease control
Last updated Jun 27, 2026 12:01 UTC
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Pill may free babies with rare diabetes from daily insulin shots
Disease control CompletedThis study tested whether babies with a rare, permanent form of diabetes caused by specific gene changes could switch from daily insulin injections to an oral pill called glibenclamide. Nineteen infants took part. The goal was to see if the pill could control their blood sugar an…
Phase 2 • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Disease control
Last updated Jun 27, 2026 07:59 UTC
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New hope for rare blood disorder: Long-Term drug study shows promise
Disease control CompletedThis study looked at the long-term safety and effectiveness of the drug mitapivat in 90 adults with pyruvate kinase deficiency, a rare genetic blood disorder that causes red blood cells to break down too quickly. Participants had already completed earlier studies of mitapivat and…
Phase 3 • Sponsor: Agios Pharmaceuticals, Inc. • Aim: Disease control
Last updated Jun 27, 2026 07:58 UTC
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Gene therapy offers hope for rare blood disorder
Disease control CompletedThis phase 1 trial tested a gene therapy called RP-L301 in 4 people with pyruvate kinase deficiency, a rare inherited blood disorder that causes severe anemia and often requires frequent blood transfusions. The treatment uses the patient's own blood stem cells, which are modified…
Phase 1 • Sponsor: Rocket Pharmaceuticals Inc. • Aim: Disease control
Last updated Jun 26, 2026 13:53 UTC
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Blood cancer enzyme deficiency explored in new study
Knowledge-focused CompletedThis study looked at how often people with certain blood cancers or related conditions have an acquired deficiency of an enzyme called pyruvate kinase, which can cause anemia. Researchers took a single blood sample from 18 participants to measure enzyme activity and check for rel…
Sponsor: Massachusetts General Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:35 UTC
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New study reveals how kids with language delays learn vocabulary
Knowledge-focused CompletedThis study looked at how the way words sound (phonotactic probability) and how they are spelled (orthography) affect vocabulary learning in 23 children with low oral language skills (DLD). All children took part in the same 12-week program, which used real words to improve vocabu…
Sponsor: Arizona State University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:34 UTC