Retrospective Observational Safety Effectiveness With Kuvan in hpA (ROSEKA)

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

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.

Study Overview

• Status: Completed
• Conditions: Tetrahydrobiopterin Deficiency
• Intervention / Treatment: Drug: KUVAN

• Study Type: Observational
• Enrollment (Actual): 26

Contacts and Locations

Study Locations

• China
  • Sichuan
    • Chengdu, Sichuan, China, 610041
      • West China Hospital of Sichuan University

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Chinese subjects with HPA caused by BH4 deficiency

Description

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 Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome 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

Collaborators and Investigators

• Sponsor: BioMarin Pharmaceutical
• Collaborators: Quintiles, Inc.
• Investigators: Study Director: Medical Director, MD, Medical Director

Study record dates

Study Major Dates

• Study Start (Actual): October 10, 2017
• Primary Completion (Actual): March 9, 2018
• Study Completion (Actual): July 25, 2018

Study Registration Dates

• First Submitted: February 22, 2019
• First Submitted That Met QC Criteria: March 4, 2019
• First Posted (Actual): March 6, 2019

Study Record Updates

• Last Update Posted (Actual): March 7, 2019
• Last Update Submitted That Met QC Criteria: March 5, 2019
• Last Verified: March 1, 2019

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Amino Acid Metabolism, Inborn Errors; Phenylketonurias
• Other Study ID Numbers: BMN 162-504

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: Yes
• Studies a U.S. FDA-regulated device product: No