Please sign in to follow a disease.
Pyridoxine-dependent epilepsy
MONDO:0009945A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6).
Also known as: antiquitin deficiency, pyridoxine-dependent epilepsy, vitamin B6-dependent seizures, AASA dehydrogenase deficiency, EPD, Epd, epilepsy, pyridoxine-dependent, pyridoxine dependency
10 clinical trials for this condition and its sub-types.
Follow this condition to get notified about new trialsSub-types
Broader categories
-
Cialis and keytruda together against head and neck cancer: small trial shows promise?
Disease control CompletedThis completed phase II study tested a combination of two drugs—tadalafil (Cialis) and pembrolizumab (Keytruda)—in 7 adults with advanced head and neck cancer that had spread or come back. The goal was to see if the combination was safe and could help control the disease. Because…
Phase 2 • Sponsor: University of California, San Diego • Aim: Disease control
Last updated Jun 27, 2026 09:04 UTC
-
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
-
Can a special diet shape brain development in a rare epilepsy?
Knowledge-focused CompletedThis study looks at how children over age 3 with pyridoxine-dependent epilepsy, a rare genetic condition, develop cognitively over time. Researchers will use a standardized questionnaire called Vineland II to measure adaptive behaviors like communication and daily living skills. …
Sponsor: University Hospital, Angers • Aim: Knowledge-focused
Last updated Aug 12, 2026 00:00 UTC