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Retrospective Observational Safety Effectiveness With Kuvan in hpA

Completed
Conditions
Tetrahydrobiopterin Deficiency
Registration Number
NCT03864029
Lead Sponsor
BioMarin Pharmaceutical
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.

Detailed Description

Not available

Recruitment & Eligibility

Status
COMPLETED
Sex
All
Target Recruitment
26
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.

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Number of participants with AE reported (% of patient with AE reported)2010-2015
Retrospective body weight as indicated in medical note (kg)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
Incidents and severity of AE reported (% of incident / % of each severity)2010-2015
Retrospective intelligence development status via China local standard development assessment method (score)2010-2015
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 body height as indicated in medical note (cm)2010-2015
Retrospective occipital / frontal circumferences as indicated in medical note (cm)2010-2015
Retrospective blood Phe level as indicated in laboratory testing results (μmol/L)2010-2015
Secondary Outcome Measures
NameTimeMethod

Trial Locations

Locations (1)

West China Hospital of Sichuan University

🇨🇳

Chengdu, Sichuan, China

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