Oral Pyridoxal 5'-Phosphate for the Treatment of Patients With PNPO Deficiency

Study Overview
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Brief Summary
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The proposed clinical study is intended to evaluate oral P5P for the treatment of patients confirmed to have Pyridox(am)ine 5'-Phosphate Oxidase (PNPO) deficiency via genetic analysis. There is an unmet clinical need for pharmaceutical grade P5P, as to date none has been made commercially available. Patients will receive pharmaceutical grade P5P according to their normal oral P5P dosing regimen, as previously established by their physicians.

Official Title
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Study of Pyridoxal 5'-Phosphate for the Treatment of Patients With PNPO Deficiency

Conditions
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Pyridox(am)Ine 5'-Phosphate Oxidase Deficiency

Intervention / Treatment
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* Drug: Pyridoxal Phosphate


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patients with confirmed PNPO deficiency via genetic analysis, whose seizures are typically controlled on P5P (oral) therapy. a. Typically controlled is defined as receiving multiple doses of P5P daily to control seizures. Receiving P5P for a minimum of 30 days. Male and/or female patients. Patients with previous failed treatment on pyridoxine are eligible for the study (patient should be off pyridoxine for at least 24 hours). Written informed consent (by parent or guardian if under the age of 18). Exclusion Criteria: The patient has any condition or abnormality which may, in the opinion of the Investigator, compromise the safety of the patient, or influence their ability to comply with study procedures. Known or suspected allergy to the trial drug or the relevant drugs given in the trial. Involvement in a clinical research study within 4 weeks prior to screening and/or prior enrollment in the study. Participation in observational registry studies is permitted.
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Single Arm Active<br>Pyridoxal 5'-Phosphate | Drug: Pyridoxal Phosphate<br>* Oral tablets 50 mg<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Overall survival time (time to death), including incidence of death at 12 months | The study group will be compared to a historical control group (without active treatment) for overall survival by using the method of survival analysis | 12 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Frequency of seizures (including but not limited to status epilepticus) | The frequency of seize will be compared between different treatment periods of the current single arm: Pharmaceutical grade oral P5P treatment period vs period prior to any P5P treatment (if data available) | up to 12 months |