A Phase IV, prospective, open-label, uncontrolled, single-centre cohort trial to be conducted in Norway to assess the responsiveness of subjects with phenylketonuria (PKU) to treatment with Kuvan® 20 mg/kg/day for 7 days. - Response to Kuvan® in subjects with PKU from a single centre in Norway

Phase 1

Conditions: Hyperphenylalaninemia (HPA) in adults and children >=16 years of age with phenylketonuri (PKU) (classic or mild PKU, or mild hyperphenylalaninemia (HPA)).
MedDRA version: 9.1Level: LLTClassification code 10034872Term: Phenylketonuria
MedDRA version: 9.1Level: LLTClassification code 10034873Term: Phenylketonuria (PKU)
MedDRA version: 9.1Level: PTClassification code 10034872Term: Phenylketonuria
MedDRA version: 9.1Level: LLTClassification code 10034871Term: Phenylalaninemia

Registration Number: EUCTR2009-012978-12-NO

Lead Sponsor: Merck Serono, an affiliate of E. Merck AB

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: ot Recruiting

Sex: All

Target Recruitment: Not specified

Inclusion Criteria

Subjects will be included if they meet the following requirements:
•aged between =16 years and 65 years at the screening visit
•diagnosed with PKU (classic PKU, mild PKU or mild HPA)
•previously untreated with sapropterin dihydrochloride
•baseline blood PHE measurement =400 µmol/L
•agreed to comply with study procedures
•provided written informed consent.

Are the trial subjects under 18? yes
Number of subjects for this age range:
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range

Exclusion Criteria

Main exclusion criteria are:
•documented BH4 deficiency
•pregnant, planning pregnancy or breastfeeding.

Study & Design

Study Type: Interventional clinical trial of medicinal product

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Main Objective: The primary objective is to identify subjects with PKU responsive to Kuvan® (=30% reduction from baseline in blood PHE level) in a single centre in Norway using the 24-hour BH4 loading test.;Secondary Objective: The secondary objectives are to compare the response to Kuvan® in subjects with PKU after the 24-hour BH4 loading test with the response to Kuvan® after 7 days of treatment, and to compare the response to Kuvan® between subjects with differing PKU genotypes and phenotypes.;Primary end point(s): The primary endpoint is the proportion of subjects with a =30% reduction from baseline in blood PHE level (responders) to 24 hours after treatment with Kuvan® 20 mg/kg (the BH4- loading test).

Secondary Outcome Measures