Pyridox(am)Ine 5'-Phosphate Oxidase DeficiencyPhase 3MEND-PNPONCT04706013
Oral Pyridoxal 5'-Phosphate for the Treatment of Patients With PNPO Deficiency
A Phase 3 study testing Pyridoxal Phosphate in people with Pyridox(am)Ine 5'-Phosphate Oxidase Deficiency, run by Medicure at 7 sites in 2 countries.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Pyridox(am)Ine 5'-Phosphate Oxidase Deficiency
- What is being tested?
- Pyridoxal Phosphate
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 15 participants
- Where
- 7 sitesin 2 countries
- Study dates
- 16 Feb 2024to Sep 2027
- Phase
- Phase 3
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Patients with confirmed PNPO deficiency via genetic analysis, whose seizures are typically controlled on P5P (oral) therapy.
- 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
- Patients with previous failed treatment on pyridoxine are eligible for the study (patient should be off pyridoxine for at least 24 hours).
- Written informed consent (by parent or guardian if under the age of 18).
Who cannot join
- 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.
Trial locations and contacts
7 sites in 2 countries.
7 sites in 2 countries
United States6 sites
Akron's Children's Hospital
Akron, Ohio, 44308
Children's Hospital Colorado
Aurora, Colorado, 80045
Children's Hospital of Alabama
Birmingham, Alabama, 35233
Boston Children's Hospital
Boston, Massachusetts, 02115
Duke Children's Hospital
Durham, North Carolina, 27705
Lucile Packard Children's Hospital
Palo Alto, California, 94304
About this study
Official title: Study of 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.
- Being tested
- Pyridoxal Phosphate
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Pyridoxal PhosphateDrug
Oral tablets 50 mg
| Study group | Role | What they receive |
|---|---|---|
| Single Arm Active | Experimental | Pyridoxal 5'-Phosphate Receives: Drug: Pyridoxal Phosphate |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 12 months
Secondary outcomes (1)
Frequency of seizures (including but not limited to status epilepticus)
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)
Measured: up to 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Jan 2021
- Study start16 Feb 2024
- Primary completionSep 2027 (estimated)
- Study completionSep 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pyridox(am)Ine 5'-Phosphate Oxidase DeficiencyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 3
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 15 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Medicure
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04706013
- Sponsor's protocol ID
- MEND-PNPO 16002
- Acronym
- MEND-PNPO
- Status last verified
- Oct 2026
- First submitted
- 8 Jan 2021
- Last updated
- 28 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 28 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of Pyridoxal 5'-Phosphate for the Treatment of Patients With PNPO Deficiency
- ClinicalTrials.gov ID
- NCT04706013
- Acronym / sponsor ID
- MEND-PNPO / MEND-PNPO 16002
- Phase
- Phase 3
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 15 participants (estimated)
- Lead sponsor
- MedicureIndustry (pharma, biotech, devices)
- Study start
- 16 Feb 2024 (actual)
- Primary completion
- Sep 2027 (estimated)
- Study completion
- Sep 2027 (estimated)
- First posted
- 12 Jan 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Single Arm Active | Experimental | Drug: Pyridoxal PhosphatePyridoxal 5'-Phosphate |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (6 listed)
- Patients with confirmed PNPO deficiency via genetic analysis, whose seizures are typically controlled on P5P (oral) therapy.
- Male and/or female patients.
- Aged ≥2 years
- Patients with previous failed treatment on pyridoxine are eligible for the study (patient should be off pyridoxine for at least 24 hours).
- Written informed consent (by parent or guardian if under the age of 18).
Key exclusion criteria (3 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Pyridoxal PhosphateOral tablets 50 mg | Drug | Single Arm Active |
Primary outcome
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
1 secondary outcome
Frequency of seizures (including but not limited to status epilepticus)
Time frame: up to 12 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Oct 2026.
- Individual participant dataSharing planned: Undecided
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
7 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 3 study testing Pyridoxal Phosphate in people with Pyridox(am)Ine 5'-Phosphate Oxidase Deficiency, run by Medicure at 7 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 28 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 sites in United States, Australia. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 3 studies compare the treatment with the current standard treatment or a placebo in a large group, to confirm how well it works and watch for side effects.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Overall survival time (time to death), including incidence of death at 12 months (time frame: 12 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Oct 2026.