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Pyruvate dehydrogenase E2 deficiency
MONDO:0009502Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.
Also known as: dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency, dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency, pyruvate dehydrogenase E2 deficiency, pyruvate dehydrogenase complex component E2 deficiency, PDHDD, lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase Complex
19 clinical trials for this condition and its sub-types, 0 tagged with Pyruvate dehydrogenase E2 deficiency itself.
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New drug shows promise for rare energy disorder
Disease control CompletedThis study tested a new drug called OMT-28 in 28 people with primary mitochondrial disease, a condition that affects how cells produce energy. Participants took the drug once daily for 6 months, and researchers measured safety, blood markers of inflammation, and symptoms like fat…
Phase 2 • Sponsor: Omeicos Therapeutics GmbH • Aim: Disease control
Last updated Jun 27, 2026 08:13 UTC
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Long-Term safety of mitochondrial drug confirmed in 101 patients
Disease control CompletedThis study looked at the safety of vatiquinone in 101 people with inherited mitochondrial disease who had already taken the drug in a previous study or treatment plan. The goal was to track any side effects until the drug became commercially available or the program ended. Partic…
Phase 3 • Sponsor: PTC Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 08:05 UTC
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Laser test could objectively measure nerve pain for first time
Diagnosis CompletedThis study tested whether a diode laser can act as a biomarker to measure neuropathic pain in people with peripheral neuropathy. Researchers compared pain responses to a lidocaine patch versus a placebo patch in 75 participants. The goal was to see if the laser test could disting…
Sponsor: University of Utah • Aim: Diagnosis
Last updated Jun 27, 2026 12:09 UTC