Variations of blood phenylalanine and tyrosine in children with phenylketonuria under sapropteri

Phase 1

• Conditions: Phenylketonuria (PKU) is an autosomal recessive metabolic genetic disorder by a mutation in the gene for the enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. Left untreated, the disease will result in high concentrations of phenylalanine (Phe) in blood and tissues, likely resulting in severe mental retardation and behavioural problems. Treatment focusus on the restriction of dietary phenylalanine intake with supplementation of a synthetic phenylalaninefree amino acid mixture.; Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]

• Registration Number: EUCTR2010-021343-41-NL
• Lead Sponsor: niversity Medical Center Groningen

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2011-11-30
• Last Update Posted: 31 October 2016

Recruitment & Eligibility

• Status: Authorised-recruitment may be ongoing or finished
• Sex: All
• Target Recruitment: Not specified

Inclusion Criteria

- Males and females 4-12 years of age.
- Diagnosed with phenylketonuria by newborn screening.
- Tested to be sapropterin responsive.
- Under good metabolic control; defined as 2/3 or 67% of the blood phenylalanine levels within target ranges during the last year.

Are the trial subjects under 18? yes
Number of subjects for this age range: 20
F.1.2 Adults (18-64 years) no
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

- Concomitant disease which may preclude the participation in the study in the judgment of the investigator.
- Intercurrent illness which might influence the blood phenylalanine levels.
- Concomitant medication as mentioned in the Kuvan® SPC.
- Known hypersensitivity to Kuvan® or its excipients.
- Known hypersensitivity to other approved or non-approved formulations of tetrahydrobiopterin.
- Non-compliance with study procedures in the judgement of the investigator.

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified