Actively Recruiting

Phase 3
All Genders
NCT04706013

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

Led by Medicure · Updated on 2025-10-16

15

Participants Needed

7

Research Sites

141 weeks

Total Duration

On this page

AI-Summary

What this Trial 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.

CONDITIONS

Official Title

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

Who Can Participate

All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Patients with confirmed PNPO deficiency via genetic analysis whose seizures are typically controlled on oral P5P therapy
  • Receiving multiple doses of P5P daily for seizure control for at least 30 days
  • Male or female patients
  • Aged 2 years or older
  • Patients with previous failed pyridoxine treatment are eligible if off pyridoxine for at least 24 hours
  • Written informed consent provided by patient or guardian if under 18 years old
Not Eligible

You will not qualify if you...

  • Any condition or abnormality that may compromise patient safety or ability to comply with study procedures as judged by the Investigator
  • Known or suspected allergy to the trial drug or related drugs
  • Participation in another clinical research study within 4 weeks prior to screening or prior enrollment in this study (participation in observational registry studies is allowed)

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 7 locations

1

Children's Hospital of Alabama

Birmingham, Alabama, United States, 35233

Actively Recruiting

2

Lucile Packard Children's Hospital

Palo Alto, California, United States, 94304

Actively Recruiting

3

Children's Hospital Colorado

Aurora, Colorado, United States, 80045

Actively Recruiting

4

Boston Children's Hospital

Boston, Massachusetts, United States, 02115

Actively Recruiting

5

Duke Children's Hospital

Durham, North Carolina, United States, 27705

Active, Not Recruiting

6

Akron's Children's Hospital

Akron, Ohio, United States, 44308

Actively Recruiting

7

Queensland Children's Hospital

South Brisbane, Queensland, Australia

Active, Not Recruiting

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Research Team

L

Laura Cole, Ph.D.

CONTACT

How is the study designed?

Study Type

INTERVENTIONAL

Masking

NONE

Allocation

NA

Model

SINGLE_GROUP

Primary Purpose

TREATMENT

Number of Arms

1

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