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

Description

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

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Study Overview

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Study Details

Study 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.

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

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

Condition
Pyridox(am)Ine 5'-Phosphate Oxidase Deficiency
Intervention / Treatment

-

Contacts and Locations

Birmingham

Children's Hospital of Alabama, Birmingham, Alabama, United States, 35233

Palo Alto

Lucile Packard Children's Hospital, Palo Alto, California, United States, 94304

Durham

Duke Children's Hospital, Durham, North Carolina, United States, 27705

Akron

Akron's Children's Hospital, Akron, Ohio, United States, 44308

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • 1. Patients with confirmed PNPO deficiency via genetic analysis, whose seizures are typically controlled on P5P (oral) therapy.
  • 2. Male and/or female patients.
  • 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).
  • 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.

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Medicure,

Study Record Dates

2025-05