Tetrahydrobiopterin Deficiency
Conditions
Brief summary
A retrospective study to collect the effectiveness and safety data of the past treatment with KUVAN in Chinese patients with HPA caused by BH4 deficiency. The data was collected from relevant past medical history and past clinical and safety assessments.
Interventions
DRUGKUVAN
retrospective data on the effectiveness of past treatment with KUVAN®. It includes blood Phe level, physical development status, intelligence development status, etc., during treatment with KUVAN
Sponsors
Quintiles, Inc.
BioMarin Pharmaceutical
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Willing and able to provide informed consent (unless exemption of obtaining consent is obtained as per local regulation). Assent (if required defined by local regulation and requirement) should also be obtained from the subject and the legal authorized representative. * Diagnosed with BH4 deficiency per local practice. * KUVAN® was taken at least 1 dose to treat HPA caused by BH4 deficiency during the period of observation. * Baseline Phe concentration ≥ 450 µmol/L
Exclusion criteria
* Subject diagnosed to have Phenylketonuria (PKU) * Has any condition that, in the view of the Investigator, the medical record of the subject in the duration of observation is not reliable, or not accessible.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Diagnosis on BH4 deficiency based on medical history - laboratory testing results indicating sub-type (% in each sub-type) • Incidents and severity of AE reported (% of incident / % of each severity) | 2010-2015 |
| Retrospective KUVAN treatment history - dose (mg/kg/day), | 2010-2015 |
| Retrospective KUVAN treatment history - length of exposure (days) | 2010-2015 |
| Retrospective Baseline Phe concentration ≥ 450 μmol/L - laboratory testing results (μmol/L) | 2010-2015 |
| Number of participants with AE reported (% of patient with AE reported) | 2010-2015 |
| Incidents and severity of AE reported (% of incident / % of each severity) | 2010-2015 |
| Retrospective blood Phe level as indicated in laboratory testing results (μmol/L) | 2010-2015 |
| Retrospective body height as indicated in medical note (cm) | 2010-2015 |
| Retrospective body weight as indicated in medical note (kg) | 2010-2015 |
| Retrospective occipital / frontal circumferences as indicated in medical note (cm) | 2010-2015 |
| Retrospective intelligence development status via China local standard development assessment method (score) | 2010-2015 |
Countries
China
Outcome results
None listed