Status:

RECRUITING

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

Lead Sponsor:

Medicure

Conditions:

Pyridox(am)Ine 5'-Phosphate Oxidase Deficiency

Eligibility:

All Genders

Phase:

PHASE3

Brief Summary

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 unm...

Eligibility Criteria

Inclusion

  • 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.
  • 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

  • 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.

Key Trial Info

Start Date :

February 16 2024

Trial Type :

INTERVENTIONAL

Allocation :

ESTIMATED

End Date :

November 1 2026

Estimated Enrollment :

15 Patients enrolled

Trial Details

Trial ID

NCT04706013

Start Date

February 16 2024

End Date

November 1 2026

Last Update

October 16 2025

Active Locations (7)

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Page 1 of 2 (7 locations)

1

Children's Hospital of Alabama

Birmingham, Alabama, United States, 35233

2

Lucile Packard Children's Hospital

Palo Alto, California, United States, 94304

3

Children's Hospital Colorado

Aurora, Colorado, United States, 80045

4

Boston Children's Hospital

Boston, Massachusetts, United States, 02115