Oral Pyridoxal 5'-Phosphate for the Treatment of Patients With PNPO Deficiency
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Pyridoxal Phosphate.
- Who it may be relevant to
- Registry conditions: Pyridox(am)Ine 5'-Phosphate Oxidase Deficiency. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States, Australia
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Study of Pyridoxal 5'-Phosphate for the Treatment of Patients With PNPO Deficiency
Overview
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.
Interventions
- Drug Pyridoxal Phosphate
Oral tablets 50 mg
Primary outcome measures
- Overall survival time (time to death), including incidence of death at 12 months [Time frame: 12 months]
Secondary outcome measures (1)
- Frequency of seizures (including but not limited to status epilepticus) [Time frame: up to 12 months]
Eligibility criteria
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Treatment
Study locations
United States · 6 centers
- Children's Hospital of Alabama — Birmingham
- Lucile Packard Children's Hospital — Palo Alto
- Children's Hospital Colorado — Aurora
- Boston Children's Hospital — Boston
- Duke Children's Hospital — Durham
- Akron's Children's Hospital — Akron
Australia · 1 center
- Queensland Children's Hospital — South Brisbane
Identifiers
NCT: NCT04706013 · MEND-PNPO 16002