Study of Oral MC-1 for the Treatment of Patients with PNPO Deficiency

Condition studied

Seizures associated with Pyridox(am)ine 5’-Phosphate Oxidase (PNPO) deficiency

Eligibility

Primary endpoint

Incidence of death at 12 months. The incidence of death at 12 months will be compared between the study group and an external control group (without any P5P treatment).

Endpoint detail

Frequency of seizures (including but not limited to status epilepticus)