Clinical trial NCT03864029: Retrospective Observational Safety Effectiveness With Kuvan in hpA
Official title: An Observational Study Research to Collect the Effectiveness and Safety Data of KUVAN® Retrospectively in Chinese Subjects With Hyperphenylalaninemia (HPA) Caused by Tetrahydrobiopterin (BH4) Deficiency
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Tetrahydrobiopterin Deficiency
Lead sponsor: BioMarin Pharmaceutical
Sponsor class: INDUSTRY
Collaborators: name: Quintiles, Inc.
First posted: 2019-03-06
Enrollment: 26
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Chinese subjects with HPA caused by BH4 deficiency

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.


Eligibility criteria: 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.

Primary outcomes:
measure: 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)
timeFrame: 2010-2015
measure: Retrospective KUVAN treatment history - dose (mg/kg/day),
timeFrame: 2010-2015
measure: Retrospective KUVAN treatment history - length of exposure (days)
timeFrame: 2010-2015
measure: Retrospective Baseline Phe concentration ≥ 450 μmol/L - laboratory testing results (μmol/L)
timeFrame: 2010-2015
measure: Number of participants with AE reported (% of patient with AE reported)
timeFrame: 2010-2015
measure: Incidents and severity of AE reported (% of incident / % of each severity)
timeFrame: 2010-2015
measure: Retrospective blood Phe level as indicated in laboratory testing results (μmol/L)
timeFrame: 2010-2015
measure: Retrospective body height as indicated in medical note (cm)
timeFrame: 2010-2015
measure: Retrospective body weight as indicated in medical note (kg)
timeFrame: 2010-2015
measure: Retrospective occipital / frontal circumferences as indicated in medical note (cm)
timeFrame: 2010-2015
measure: Retrospective intelligence development status via China local standard development assessment method (score)
timeFrame: 2010-2015
Secondary outcomes:
Other outcomes:
Locations:
city: Chengdu
country: China
facility: West China Hospital of Sichuan University
state: Sichuan
Study officials:
affiliation: Medical Director
name: Medical Director, MD
role: STUDY_DIRECTOR
References: