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

NCT ID: NCT04706013

Last Updated: 2025-10-16

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

PHASE3

Total Enrollment

15 participants

Study Classification

INTERVENTIONAL

Study Start Date

2024-02-16

Study Completion Date

2026-11-30

Brief Summary

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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.

Detailed Description

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Conditions

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Pyridox(am)Ine 5'-Phosphate Oxidase Deficiency

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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Single Arm Active

Pyridoxal 5'-Phosphate

Group Type EXPERIMENTAL

Pyridoxal Phosphate

Intervention Type DRUG

Oral tablets 50 mg

Interventions

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Pyridoxal Phosphate

Oral tablets 50 mg

Intervention Type DRUG

Eligibility Criteria

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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.
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Medicure

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Children's Hospital of Alabama

Birmingham, Alabama, United States

Site Status RECRUITING

Lucile Packard Children's Hospital

Palo Alto, California, United States

Site Status RECRUITING

Children's Hospital Colorado

Aurora, Colorado, United States

Site Status RECRUITING

Boston Children's Hospital

Boston, Massachusetts, United States

Site Status RECRUITING

Duke Children's Hospital

Durham, North Carolina, United States

Site Status ACTIVE_NOT_RECRUITING

Akron's Children's Hospital

Akron, Ohio, United States

Site Status RECRUITING

Queensland Children's Hospital

South Brisbane, Queensland, Australia

Site Status ACTIVE_NOT_RECRUITING

Countries

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United States Australia

Central Contacts

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Laura Cole, Ph.D.

Role: CONTACT

204-487-7412

Facility Contacts

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Mackenzie Keith

Role: primary

205-934-8365

Rayann Solidum

Role: primary

415-424-1237

Nathan Holly

Role: primary

720-777-5410

Melissa DiBacco, MD

Role: primary

617-919-4617 ext. 44617

Hilary Tonni

Role: primary

330-543-4734

Other Identifiers

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MEND-PNPO 16002

Identifier Type: -

Identifier Source: org_study_id

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