Please sign in to follow a disease.
Ethylmalonic encephalopathy
MONDO:0011229Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.
Also known as: EE, EPEMA syndrome, eme, encephalopathy, ethylmalonic, encephalopathy, petechiae, and ethylmalonic aciduria, syndrome of encephalopathy, petechiae, and ethylmalonic aciduria
13 clinical trials for this condition and its sub-types, 0 tagged with Ethylmalonic encephalopathy itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →-
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
-
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