Pyridoxal Phosphate
DrugOral tablets 50 mg
Recruiting
NCT Number: NCT04706013
Oral 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.
Recruiting
Interested in participating?
Request InfoKey information
Sex eligibility
All sexes
Study type
Interventional
Phase
Phase 3
Primary location
Queensland Children's Hospital, South Brisbane, Queensland, Australia
Loading trial locations.
Who can participate
Healthy volunteers accepted: No
Only the study team can determine whether someone qualifies for participation.
Inclusion criteria
- 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).
Exclusion criteria
- 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.
Treatment and study plan
Primary outcomes
-
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
Secondary outcomes
-
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)
Study contacts
Contact information is provided by the study sponsor or research team.
Sponsors and collaborators
Lead sponsor
Medicure
Industry
Registry information
Official study title
Study of Pyridoxal 5'-Phosphate for the Treatment of Patients With PNPO Deficiency
Acronym: MEND-PNPO
Important dates
- Study start
- 2024
- Primary completion
- 2026
- Study completion
- 2026
- First posted
- Jan 12, 2021
- Registry last updated
- Oct 16, 2025
OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.
View the official ClinicalTrials.gov record (opens in a new tab)This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.