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

Pyridox(am)Ine 5'-Phosphate Oxidase Deficiency Clinical Trial

— MEND-PNPO  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04706013
• Other study ID #: MEND-PNPO 16002
• Status: Recruiting
• Phase: Phase 3
• Start date: February 16, 2024
• Est. completion date: May 2025

Study information

• Verified date: February 2024
• Source: Medicure
• Contact: Pat Follows
• Phone: 204-594-3410
• Email: pfollows[@]medicure.com
• Is FDA regulated: No
• Study type: Interventional

Clinical 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. Patients will receive pharmaceutical grade P5P according to their normal oral P5P dosing regimen, as previously established by their physicians.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 15
• Est. completion date: May 2025
• Est. primary completion date: May 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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. 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.

Related Conditions & MeSH terms

• Pyridox(am)Ine 5'-Phosphate Oxidase Deficiency

Intervention

Drug:
• Pyridoxal Phosphate
Oral tablets 50 mg

Locations

Country	Name	City	State
Australia	Queensland Children's Hospital	South Brisbane	Queensland
United States	Akron's Children's Hospital	Akron	Ohio
United States	Children's Hospital of Alabama	Birmingham	Alabama
United States	Duke Children's Hospital	Durham	North Carolina
United States	Lucile Packard Children's Hospital	Palo Alto	California

Sponsors (1)

Lead Sponsor	Collaborator
Medicure

Countries where clinical trial is conducted

United States,  Australia, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	12 months
Secondary	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)	up to 12 months