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Developmental and epileptic encephalopathy, 39
MONDO:0013056A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.
Also known as: AGC1 deficiency, DEE39, EIEE39, SLC25A12 early infantile epileptic encephalopathy, early infantile epileptic encephalopathy caused by mutation in SLC25A12, epileptic encephalopathy with global cerebral demyelination, epileptic encephalopathy, early infantile, 39, mitochondrial aspartate-glutamate carrier 1 deficiency
29 clinical trials for this condition and its sub-types.
Follow this condition to get notified about new trialsBroader categories
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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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New epilepsy drug shows promise in long-term safety trial
Disease control CompletedThis study tested the long-term safety of a drug called LP352 (bexicaserin) in 41 people aged 12 to 65 with severe epilepsy syndromes like Dravet or Lennox-Gastaut. Participants took the drug three times daily for up to 52 weeks. The main goal was to check for side effects, while…
Phase 2 • Sponsor: Longboard Pharmaceuticals • Aim: Disease control
Last updated Jun 27, 2026 08:01 UTC
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New hope for rare seizure patients: Long-Term drug safety confirmed
Disease control CompletedThis study looked at the long-term safety of a drug called fenfluramine (ZX008) for people with rare seizure disorders like Dravet syndrome and Lennox-Gastaut syndrome. A total of 412 participants who had completed earlier studies took the drug and were monitored for side effects…
Phase 3 • Sponsor: Zogenix, Inc. • Aim: Disease control
Last updated Jun 27, 2026 07:58 UTC
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Routine EEGs may hold hidden clues to childhood epilepsy — a new analysis method is put to the test
Diagnosis CompletedThis study is testing whether a computer tool called BioEP can detect signs of seizure susceptibility in standard EEG recordings from children with epilepsy. Researchers will analyze past EEGs from 530 children aged 2 to 18 who already have an epilepsy diagnosis. The goal is to s…
Sponsor: Neuronostics Ltd • Aim: Diagnosis
Last updated Aug 01, 2026 00:00 UTC
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New parent support programme shows promise for families of children with complex needs
Symptom relief CompletedThis pilot study tested a community-based group programme called 'Encompass' for parents of children under 5 with complex neurodisability. Fifteen parents in East London attended ten group sessions over six months. The study aimed to see if the programme was feasible and acceptab…
Sponsor: City, University of London • Aim: Symptom relief
Last updated Jun 27, 2026 12:05 UTC