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Pyruvate dehydrogenase phosphatase deficiency

MONDO:0012120

Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period.

Also known as: PDH phosphatase deficiency, pyruvate dehydrogenase phosphatase deficiency, PDHPD, lactic acidemia with pyruvate dehydrogenase phosphatase deficiency

47 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Metabolic disease (215) Hereditary disease (172) Peripheral nervous system disorder (107) Neuromuscular disease (98) Peripheral neuropathy (90) Inborn mitochondrial metabolism disorder (57) Inborn errors of metabolism (42) Mitochondrial disease (39)

Trials to join now! 24 Not yet recruiting 5 Not yet finished but already full! 7 Completed 10 Terminated 1

New drug aims to tame hard-to-control seizures in rare mitochondrial disorders

Disease control Terminated

This study tested a drug called vatiquinone in 68 people with mitochondrial disease and epilepsy that doesn't respond to standard treatments. Participants were randomly assigned to receive either vatiquinone or a placebo for 24 weeks to see if the drug could reduce the number of …

Phase: PHASE2, PHASE3 • Sponsor: PTC Therapeutics • Aim: Disease control

Last updated Jun 27, 2026 12:03 UTC