Recruiting
Phase 3

Pyridoxal 5'-Phosphate

Sponsor:

Medicure

Code:

NCT04706013

Conditions

Pyridox(am)Ine 5'-Phosphate Oxidase Deficiency

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Interventions

Pyridoxal Phosphate

Study Details

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 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.

Conditions

Pyridox(am)Ine 5'-Phosphate Oxidase Deficiency

Study ID

NCT04706013

Start date

Feb 16, 2024

Status verified date

Oct, 2025

Completion date

Nov, 2026

Anticipated

Primary completion date

Nov, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

15 participants

Anticipated

Intervention Model

Single group

Primary purpose

Treatment

Interventions and Outcome Measures

Arms

experimental: Single Arm Active

Pyridoxal 5'-Phosphate

Interventions

Pyridoxal Phosphate

Oral tablets 50 mg

Primary outcome measure

  • Overall survival time (time to death), including incidence of death at 12 months [ Time Frame: 12 months ]

Central Contacts and Locations

Central contacts

Locations

Children's Hospital of Alabama

Recruiting

Birmingham, Alabama, United States, 35233

Contacts

Principal Investigator:

Monisha Goyal, MD

Lucile Packard Children's Hospital

Recruiting

Palo Alto, California, United States, 94304

Contacts

Principal Investigator:

Courtney Wusthoff, MD

Children's Hospital Colorado

Recruiting

Aurora, Colorado, United States, 80045

Contacts

Principal Investigator:

Johan Van Hove, MD

Boston Children's Hospital

Recruiting

Boston, Massachusetts, United States, 02115

Contacts

Principal Investigator:

Phillip Pearl, MD

Akron's Children's Hospital

Recruiting

Akron, Ohio, United States, 44308

Contacts

Principal Investigator:

Matthew Ginsberg, MD

More Information

Sponsor

Medicure

Last update posted

Oct 16, 2025

Last verified

Oct, 2025

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Medicure on 2025-10-16.