Pyridoxal phosphate-responsive seizures
MONDO:0012407A very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.
Also known as: PNPO deficiency, PNPO-related neonatal epileptic encephalopathy, pyridox(am)ine 5’-phosphate oxidase deficiency, pyridoxal phosphate-dependent seizures, pyridoxamine 5'-phosphate oxidase deficiency, pyridoxine 5' phosphate oxidase deficiency, PNPOD, Pnpo deficiency
9 clinical trials for this condition and its sub-types.
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New inhaler aims to halt seizures in seconds
Disease control Recruiting nowThis Phase 3 trial tests a single inhaled dose of alprazolam (a fast-acting sedative) to stop prolonged seizures in people aged 12 and older. The goal is to see if it can end a seizure within 90 seconds and prevent it from coming back for at least 2 hours. About 350 participants …
Phase 3 • Sponsor: UCB Biopharma SRL • Aim: Disease control
Last updated Aug 29, 2026 00:00 UTC
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Can a new Add-On seizure drug stay safe for kids over time?
Disease control Recruiting nowThis trial is testing the long-term safety of brivaracetam, an anti-seizure medication, when used alongside other epilepsy treatments in children. Researchers are monitoring for side effects, including serious ones, over an extended period. The study includes children who previou…
Phase 3 • Sponsor: UCB Biopharma SRL • Aim: Disease control
Last updated Jul 29, 2026 00:00 UTC
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New hope for kids with rare seizure disorder: vitamin B6 therapy in final testing phase
Disease control Recruiting nowThis study tests an oral form of pyridoxal 5'-phosphate (P5P), a vitamin B6 derivative, for people with a rare genetic condition called PNPO deficiency. The condition causes hard-to-control seizures. The study will enroll 15 patients aged 2 years and older who already take P5P to…
Phase 3 • Sponsor: Medicure • Aim: Disease control
Last updated Jun 27, 2026 07:54 UTC
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Rehearsal and sleep: unlocking memory secrets in epilepsy
Knowledge-focused Recruiting nowThis study investigates how rehearsal (repeating information) and sleep help solidify memories in people with epilepsy. Participants learn object-location pairs, with some pairs rehearsed and others not, and their memory is tested after a short delay and again after 12 hours—eith…
Sponsor: Hospices Civils de Lyon • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:03 UTC
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Super MRI scans aim to unlock secrets of brain resilience
Knowledge-focused Recruiting nowThis study uses powerful MRI scanners to look at the brains and spinal cords of 700 people, including healthy volunteers and those with conditions like multiple sclerosis, Alzheimer's, and Parkinson's. The goal is to understand why some brains stay healthy while others decline. R…
Sponsor: Assistance Publique Hopitaux De Marseille • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:52 UTC