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Clinical Trials in the USA / NCT04706013
Recruiting Phase 3

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

NCT04706013 · tracked via the Priya Life Science USA tracker
Sponsor
Medicure
Phase
Phase 3
Started
2024-02-16
Last updated
2025-10-16

Condition(s) studied

Pyridox(am)Ine 5'-Phosphate Oxidase Deficiency

Investigational drug(s) / intervention(s)

Pyridoxal Phosphate

Pyridoxal Phosphate: Oral tablets 50 mg

Study 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.

Eligibility

Sex
ALL
Min age
—
Max age
—
Healthy volunteers
No
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.

Primary outcome measure(s)

Trial sites (7)

FacilityCityRegionStatus
Children's Hospital of Alabama Birmingham Alabama Recruiting
Lucile Packard Children's Hospital Palo Alto California Recruiting
Children's Hospital Colorado Aurora Colorado Recruiting
Boston Children's Hospital Boston Massachusetts Recruiting
Duke Children's Hospital Durham North Carolina Active Not Recruiting
Akron's Children's Hospital Akron Ohio Recruiting
Queensland Children's Hospital South Brisbane Queensland Active Not Recruiting
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT04706013 on ClinicalTrials.gov ↗ ← All trials in the USA