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

NCT04706013 | Recruiting Phase 3 FDA Drug

• 1 other identifier: MEND-PNPO 16002
• Study Type: interventional
• Target: 15
• Locations: 2 countries
• Sites: 7

Brief 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.

Conditions

Pyridox(am)Ine 5'-Phosphate Oxidase Deficiency

Outcome Measures

Primary Outcomes (1)

• Overall survival time (time to death), including incidence of death at 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 Outcomes (1)

• Frequency of seizures (including but not limited to status epilepticus)

  up to 12 months

Study Arms (1)

Single Arm Active

EXPERIMENTAL

Pyridoxal 5'-Phosphate

Drug: Pyridoxal Phosphate

Interventions

Pyridoxal Phosphate DRUG

Oral tablets 50 mg

Single Arm Active

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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).

You may not qualify if:

• 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.

Sponsors & Collaborators

• Medicure: lead

Study Sites (7)

Children's Hospital of Alabama

Birmingham, Alabama, 35233, United States

RECRUITING

Lucile Packard Children's Hospital

Palo Alto, California, 94304, United States

RECRUITING

Children's Hospital Colorado

Aurora, Colorado, 80045, United States

RECRUITING

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

RECRUITING

Duke Children's Hospital

Durham, North Carolina, 27705, United States

ACTIVE NOT RECRUITING

Akron's Children's Hospital

Akron, Ohio, 44308, United States

RECRUITING

Queensland Children's Hospital

South Brisbane, Queensland, Australia

ACTIVE NOT RECRUITING

MeSH Terms

Interventions

Pyridoxal Phosphate

Intervention Hierarchy (Ancestors)

Pyridoxal; Vitamin B 6; Picolines; Pyridines; Heterocyclic Compounds, 1-Ring; Heterocyclic Compounds; Coenzymes; Enzymes and Coenzymes

Central Study Contacts

Laura Cole, Ph.D.

CONTACT

204-487-7412; lcole@medicure.com

Study Design

• Study Type: interventional
• Phase: phase 3
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 8, 2021
• First Posted: January 12, 2021
• Study Start: February 16, 2024
• Primary Completion (Estimated): November 1, 2026
• Study Completion (Estimated): November 1, 2026
• Last Updated: October 16, 2025

Record last verified: 2025-10

Locations

US (6); AU (1)