View clinical trials related to Pyridoxine Dependant Epilepsy.
Filter by:PDE MAX is a single arm prospective, feasibility study in up to 15 participants aged one (1) year and over of PDE MAX for the dietary management of Pyridoxine Dependent Epilepsy.
Restricting dietary lysine intake in infants from age 3 months or less with confirmed diagnosis of pyridoxine-dependent epilepsy due to Antiquitin (ATQ) deficiency will: reduce the accumulation of neurotoxic substratesα-aminoadipicsemialdehydeandits cyclic equivalent 1-piperideine-6-carboxylate;and will improve overall neurodevelopmental outcome at 3 years of age by acting as an effective intervention into the complex pathophysiology of the condition.