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 Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Enrollment
15
Oral tablets 50 mg
Children's Hospital of Alabama
Birmingham, Alabama, United States
RECRUITINGLucile Packard Children's Hospital
Palo Alto, California, United States
RECRUITINGChildren's Hospital Colorado
Aurora, Colorado, United States
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
Time frame: 12 months
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)
Time frame: up to 12 months
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Boston Children's Hospital
Boston, Massachusetts, United States
RECRUITINGDuke Children's Hospital
Durham, North Carolina, United States
ACTIVE_NOT_RECRUITINGAkron's Children's Hospital
Akron, Ohio, United States
RECRUITINGQueensland Children's Hospital
South Brisbane, Queensland, Australia
ACTIVE_NOT_RECRUITING