Multicentre study about therapie management, nutrient supply and long-term outcome of patients with mild hyperphenylalaninemia and classical phenylketonuria

Recruiting

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

• Registration Number: DRKS00004942
• Lead Sponsor: niversität Leipzig

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2013-07-09
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: All
• Target Recruitment: 50

Inclusion Criteria

Patients with mild hyperphenylalaninemia or phenylketonuria

patients of both sexes with a minimum age of 4 year.

At the clinical/ study visit the patient is clinically healthy except for the mild hyperphenylalaninemia and phenylketonuria.

written informed consent of patient or and parents/ legal representative

Exclusion Criteria

-Inability to fulfill study criteria
-patients with psychiatric disorders
-epilepsy
-atypical phenylketonuria
-blood loss of more than 500 ml in the last three months
-severe allergic diathesis
-severe organic diseases
-acute diseases at the study visit, especially acute infections
-Every chronic disease or results of surgery of gestive tract which may affected resorption, metabolism or excretion (e.g. pancreatic insufficiency,
-Refusal to give consent
-Other metabolic disorders except for mild hyperphenylalaninemia and phenylketonuria
-Dystrophy (weight below the 5th percentile)
-Implementation of other diets except for the phenylalanine restricted diet
-Pregnancy or planned pregnancy

Study & Design

• Study Type: observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Metabolic control (as measured by dried blood phenylalanine concentrations – determinations means and range of variation)<br>Retrospective (max. 10 years ago) and prospective survey of dried blood phenylalanine concentrations of PKU patients regularly followed in the outpatient’s clinic in Leipzig<br><br>Determination of dried blood phenylalanine concentrations by liquid chromatography/<br>tandem mass spectrometry (LC-MS/MS)<br>