Oral P5P treatment for PNPO deficiency

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

This study is testing if taking a new form of vitamin B6 can help people with PNPO deficiency control their seizures better.

Quick facts

• Phase: Phase 3
• Study type: Interventional
• Enrollment: 15 (estimated)
• Sex: All
• Sponsor: Medicure (Industry-sponsored)
• Locations: 7 sites (Birmingham, Alabama and 6 other locations)
• Trial ID: NCT04706013 on ClinicalTrials.gov

What this trial studies

This clinical trial evaluates the effectiveness of oral Pyridoxal 5'-Phosphate (P5P) in treating patients diagnosed with Pyridox(am)ine 5'-Phosphate Oxidase (PNPO) deficiency through genetic testing. Participants will receive pharmaceutical grade P5P based on their established dosing regimen, which has been previously determined by their healthcare providers. The study aims to address the unmet need for a commercially available form of P5P, as current options are limited. The trial is designed to assess the safety and efficacy of this treatment in controlling seizures associated with PNPO deficiency.

Who should consider this trial

Good fit: Ideal candidates are patients with confirmed PNPO deficiency who have previously managed their seizures with oral P5P therapy.

Not a fit: Patients who have not been diagnosed with PNPO deficiency or those with conditions that compromise their safety may not benefit from this study.

Why it matters

Potential benefit: If successful, this treatment could significantly improve seizure control in patients with PNPO deficiency.

How similar studies have performed: While this approach is novel in terms of providing pharmaceutical grade P5P, similar studies have shown promise in managing metabolic deficiencies with targeted therapies.

Eligibility criteria

Inclusion Criteria:

1. 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.
2. Male and/or female patients.
3. Aged ≥2 years

(3) Patients with previous failed treatment on pyridoxine are eligible for the study (patient should be off pyridoxine for at least 24 hours).

(4) Written informed consent (by parent or guardian if under the age of 18).

Exclusion Criteria:

1. 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.
2. Known or suspected allergy to the trial drug or the relevant drugs given in the trial.
3. 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.

Where this trial is running

Birmingham, Alabama and 6 other locations

• Children's Hospital of Alabama — Birmingham, Alabama, United States (Recruiting)
• Lucile Packard Children's Hospital — Palo Alto, California, United States (Recruiting)
• Children's Hospital Colorado — Aurora, Colorado, United States (Recruiting)
• Boston Children's Hospital — Boston, Massachusetts, United States (Recruiting)
• Duke Children's Hospital — Durham, North Carolina, United States (Active_not_recruiting)
• Akron's Children's Hospital — Akron, Ohio, United States (Recruiting)
• Queensland Children's Hospital — South Brisbane, Queensland, Australia (Active_not_recruiting)

Study contacts

• Study coordinator: Laura Cole, Ph.D.

Conditions PyridoxIne 5'-Phosphate Oxidase Deficiency