Phenylketonuria and Hyperphenylalaninemia Nutrition Study

Completed

• Conditions: Phenylketonuria (PKU) and Hyperphenylalaninemia

• Registration Number: NCT01879995
• Lead Sponsor: University of Zurich

Brief Summary

The mainstay of PKU treatment is a low-phenylalanine diet (i.e restriction of natural protein), and supplementation with a protein substitute (a mixture of amino acids free from phenylalanine, also containing micronutrients and vitamins) and special low-protein foods, to meet the patient's energy requirements. When diet and treatment is relaxed after childhood, adult and adolescent patients with phenylketonuria are at risk for malnutrition, depending on the compliance with treatment and the intake of amino acid supplements.

In this study, nutrition status of patients with PKU and hyperphenylalaninemia is systematically assessed under ongoing current treatment, in relation to Phe-tolerance, compliance with treatment, and psychosocial issues.

Study participants do not undergo any specific therapeutic or diagnostic intervention.

Detailed Description

Not available

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Study Start: 2013-06
• Study First Submitted: 2013-06-04
• Study First Submitted QC: 2013-06-13
• Study First Posted: 2013-06-18
• Primary Completion: 2015-07
• Study Completion: 2015-07
• Status Verified: 2016-02
• Last Update Submitted: 2016-02-05
• Last Update Posted: 2016-02-08

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 30

Inclusion Criteria

Not provided

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Exclusion Criteria

Not provided

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Macronutrient and micronutrient intake, calculated from a nutrition protocol (four consecutive days)	assessed during 4 consecutive days max. within 1 month after a regular consultation in the outpatient clinic	Assessed nutrients: Macronutrients: protein, fat, carbohydrates in g/kg/d; Daily phenylalanine and tyrosine intake Micronutrients and minerals: Calcium, magnesium, iron, zinc, selenium; Vitamins: D, B12, B6, C, folic acid

Secondary Outcome Measures

Name	Time	Method
body weight (kg)	determined at a routine visit at the outpatient clinic, on average once every 6 - 12 months	assessed as part of routine clinical care
Plasma amino acid profile	determined at a routine visit at the outpatient clinic, on average 1x per year	this outcome measure is not study-specific and is collected as part of established routine care.
Concentrations of micronutrients, minerals and vitamins	determined at a routine visit at the outpatient clinic, on average 1x per year	assessed parameters: Ferritin, zinc, selenium, vitamin D, vitamin B12, folic acid.; These outcome measures are not study-specific and are collected as part of established routine care
Phenylalanine level (umol/l)	assessed at the end of the four-day nutrition protocol (see primary outcome)	this outcome measure is not study-specific and is collected as part of established routine care (self-measurement by patient)

Trial Locations

Locations (2)

University Hospital Zurich, Division of Endocrinology, Diabetes and Clinical Nutrition; 🇨🇭 Zurich, ZH, Switzerland

University Children's Hospital; 🇨🇭 Zurich, Switzerland