Pyridoxine or pyridoxal‐5‐phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study (original) (raw)

Developmental Medicine & Child Neurology, 2022

Abstract

AimTo investigate the short‐term efficacy and safety of high‐dose pyridoxine and pyridoxal 5‐phosphate (P5P) in the treatment of inherited glycosylphosphatidylinositol (GPI) deficiency‐associated epilepsy.MethodParticipants with genetically confirmed GPI deficiency were treated with oral pyridoxine or P5P as compassionate use in an agreed‐upon clinical regimen. Pyridoxine (20–30 mg/kg/day) was used for 3 months. Baseline evaluation included 4 weeks of prospective seizure data and one video electroencephalogram (EEG). Seizure frequency was captured daily. The EEG was repeated after reaching maximum dosage of pyridoxine. Pyridoxine was switched to P5P (20–30 mg/kg/day) if seizure burden was unchanged after 3 months' treatment. Another EEG was done after 3 months of P5P treatment. Primary outcome measures were reduction of seizure frequency and EEG improvements.ResultsSeven participants (one female, six males; age range 5–23 year; mean age 11 years 10 months, SD 5 year 2 months) were included. The genetic causes of inherited GPI deficiency were phosphatidylinositol N‐acetylglucosaminyltransferase subunit A/T/V deficiency. All had drug‐resistant epilepsy and neurodevelopmental impairment. We observed more than 50% seizure frequency reduction in 2 out of 7 and less than 50% reduction in another 3 out of 7 participants. No participants reached seizure freedom. No remarkable changes in electrophysiological findings were observed in 6 out of 7 participants treated with pyridoxine or P5P when comparing the baseline and follow‐up EEGs.InterpretationWe observed no long‐lasting electrophysiological improvements during treatment but pyridoxine may reduce seizure frequency or burden in inherited GPI deficiency.What this paper adds Inherited glycosylphosphatidylinositol (GPI) deficiency often causes early‐onset and drug‐resistant epilepsy. Vitamin B6 is a potential disease‐specific treatment; however, efficacy and safety are ill‐defined. Pyridoxine may reduce seizure frequency or burden in inherited GPI deficiency. Pyridoxine and P5P could prove to be a useful treatment in some individuals with inherited GPI deficiency and epilepsy.

Antonio Gil-nagel hasn't uploaded this paper.

Let Antonio know you want this paper to be uploaded.

Ask for this paper to be uploaded.