Evaluation of a novel monitoring system for quantification of phenylalanine in whole blood and possible use as a point-of-care assay

• Conditions: E70.0; E70.1; Classical phenylketonuria; Other hyperphenylalaninaemias

• Registration Number: DRKS00013668
• Lead Sponsor: niversitätsklinikum Heidelberg

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2018-01-19
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Enrolling by invitation
• Sex: All
• Target Recruitment: 60

Inclusion Criteria

Patients with mild hyperphenylalaninemia or phenylketonuria (PKU) who present for follow-up in the metabolic outpatient clinic, University Children's Hospital Heidelberg.

Exclusion Criteria

Lack of informed consent for study participation.

Study & Design

• Study Type: observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
The aim of the study is the validation of a new measuring system for quantification of phenylalanine (phe) in blood and plasma of PKU (phenylketonuria) patients. The new measuring system is compared to methods currently used for phe quantification in the University Children's Hospital Heidelberg.

Secondary Outcome Measures

Name	Time	Method
Comparison of phe concentrations in different blood samples (whole blood, plasma, dried blood spots).