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

October 14, 2025 updated by: Medicure

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

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Estimated)

15

Phase

  • Phase 3

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Australia
    • Queensland
      • South Brisbane, Queensland, Australia
        • Active, not recruiting
        • Queensland Children's Hospital
  • United States
    • Alabama
      • Birmingham, Alabama, United States, 35233
        • Recruiting
        • Children's Hospital of Alabama
        • Contact:
        • Principal Investigator:
          • Monisha Goyal, MD
    • California
      • Palo Alto, California, United States, 94304
        • Recruiting
        • Lucile Packard Children's Hospital
        • Contact:
        • Principal Investigator:
          • Courtney Wusthoff, MD
    • Colorado
      • Aurora, Colorado, United States, 80045
        • Recruiting
        • Children's Hospital Colorado
        • Contact:
        • Principal Investigator:
          • Johan Van Hove, MD
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
        • Recruiting
        • Boston Children's Hospital
        • Principal Investigator:
          • Phillip Pearl, MD
        • Contact:
    • North Carolina
      • Durham, North Carolina, United States, 27705
        • Active, not recruiting
        • Duke Children's Hospital
    • Ohio
      • Akron, Ohio, United States, 44308
        • Recruiting
        • Akron's Children's Hospital
        • Contact:
        • Principal Investigator:
          • Matthew Ginsberg, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Treatment
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Single Arm Active
Pyridoxal 5'-Phosphate
Drug: Pyridoxal Phosphate
Oral tablets 50 mg

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Overall survival time (time to death), including incidence of death at 12 months
Time Frame: 12 months
The study group will be compared to a historical control group (without active treatment) for overall survival by using the method of survival analysis
12 months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Frequency of seizures (including but not limited to status epilepticus)
Time Frame: up to 12 months
The frequency of seize will be compared between different treatment periods of the current single arm: Pharmaceutical grade oral P5P treatment period vs period prior to any P5P treatment (if data available)
up to 12 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Medicure

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 16, 2024

Primary Completion (Estimated)

November 1, 2026

Study Completion (Estimated)

November 1, 2026

Study Registration Dates

First Submitted

January 8, 2021

First Submitted That Met QC Criteria

January 11, 2021

First Posted (Actual)

January 12, 2021

Study Record Updates

Last Update Posted (Estimated)

October 16, 2025

Last Update Submitted That Met QC Criteria

October 14, 2025

Last Verified

October 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • MEND-PNPO 16002

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

Yes

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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