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RecruitingPhase 3

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

Medicure · NCT04706013

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Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Any age listed · All sexes
Healthy volunteers
Not accepted (a condition is required)
Study type
Interventional · Phase 3
Target enrollment
15
US sites recruiting
5
Study start
February 16, 2024
Record last updated
October 16, 2025

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study is about

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.

Being studied: Pyridoxal Phosphate

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

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full criteria

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.
  • 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

  • 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.

Recruiting US locations

  • Children's Hospital of Alabama

    Birmingham, AL 35233

    Site contact: Mackenzie Keith · 205-934-8365 · mkeith@uabmc.edu

  • Lucile Packard Children's Hospital

    Palo Alto, CA 94304

    Site contact: Rayann Solidum · 415-424-1237 · rsolidum@stanford.edu

  • Children's Hospital Colorado

    Aurora, CO 80045

    Site contact: Nathan Holly · 720-777-5410 · Nathan.Holly@childrenscolorado.org

  • Boston Children's Hospital

    Boston, MA 02115

    Site contact: Melissa DiBacco, MD · 617-919-4617 · Melissa.DiBacco@childrens.harvard.edu

  • Akron's Children's Hospital

    Akron, OH 44308

    Site contact: Hilary Tonni · 330-543-4734 · HTonni@akronchildrens.org

Study contacts (from the official record)

  • Laura Cole, Ph.D. · 204-487-7412 · lcole@medicure.com
Oral Pyridoxal 5'-Phosphate for the Treatment of Patients With… (NCT04706013) | Bored Studies