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

Last updated: February 28, 2025
Sponsor: Medicure
Overall Status: Active - Recruiting

Phase

3

Condition

N/A

Treatment

Pyridoxal Phosphate

Clinical Study ID

NCT04706013
MEND-PNPO 16002
  • All Genders

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 Criteria

Inclusion

Inclusion Criteria:

  1. Patients with confirmed PNPO deficiency via genetic analysis, whose seizures aretypically controlled on P5P (oral) therapy. a. Typically controlled is defined as receiving multiple doses of P5P daily tocontrol seizures. Receiving P5P for a minimum of 30 days.

  2. Male and/or female patients.

  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

Exclusion Criteria:

  1. The patient has any condition or abnormality which may, in the opinion of theInvestigator, compromise the safety of the patient, or influence their ability tocomply with study procedures.

  2. Known or suspected allergy to the trial drug or the relevant drugs given in thetrial.

  3. Involvement in a clinical research study within 4 weeks prior to screening and/orprior enrollment in the study. Participation in observational registry studies ispermitted.

Study Design

Total Participants: 15
Treatment Group(s): 1
Primary Treatment: Pyridoxal Phosphate
Phase: 3
Study Start date:
February 16, 2024
Estimated Completion Date:
May 31, 2025

Connect with a study center

  • Queensland Children's Hospital

    South Brisbane, Queensland
    Australia

    Site Not Available

  • Children's Hospital of Alabama

    Birmingham, Alabama 35233
    United States

    Active - Recruiting

  • Lucile Packard Children's Hospital

    Palo Alto, California 94304
    United States

    Active - Recruiting

  • Boston Children's Hospital

    Boston, Massachusetts 02115
    United States

    Active - Recruiting

  • Duke Children's Hospital

    Durham, North Carolina 27705
    United States

    Site Not Available

  • Akron's Children's Hospital

    Akron, Ohio 44308
    United States

    Active - Recruiting

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