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.
Eligibility
Sex
ALL
Min age
—
Max age
—
Healthy volunteers
No
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.
Primary outcome measure(s)
Overall survival time (time to death), including incidence of death at 12 months — 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
Trial sites (7)
Facility
City
Region
Status
Children's Hospital of Alabama
Birmingham
Alabama
Recruiting
Lucile Packard Children's Hospital
Palo Alto
California
Recruiting
Children's Hospital Colorado
Aurora
Colorado
Recruiting
Boston Children's Hospital
Boston
Massachusetts
Recruiting
Duke Children's Hospital
Durham
North Carolina
Active Not Recruiting
Akron's Children's Hospital
Akron
Ohio
Recruiting
Queensland Children's Hospital
South Brisbane
Queensland
Active Not Recruiting
Official registry record
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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