Phenylketonuria and Hyperphenylalaninemia Nutrition Study

Nutrition Status of Adult and Adolescent Patients With Classical Phenylketonuria (PKU) and Hyperphenylalaninemia

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.

Study Overview

• Status: Completed
• Conditions: Phenylketonuria (PKU) and Hyperphenylalaninemia
• Intervention / Treatment: Procedure

• Study Type: Observational
• Enrollment (Actual): 30

Contacts and Locations

Study Locations

• Switzerland
  • Zurich, Switzerland, CH-8032
    • University Children's Hospital
  • ZH
    • Zurich, ZH, Switzerland, 8091
      • University Hospital Zurich, Division of Endocrinology, Diabetes and Clinical Nutrition

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 16 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients with phenylketonuria or hyperphenylalaninemia, in treatment at the participating centres

Description

Inclusion criteria:

• PKU (Phenylketonuria) or hyperphenylalaninemia
• male or female, minimum age 16y
• signed informed consent

Exclusion criteria:

- patient who can not comply with the study protocol (e.g. unable to fill in questionnaires by themselves or a representative)

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Macronutrient and micronutrient intake, calculated from a nutrition protocol (four consecutive days)	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	assessed during 4 consecutive days max. within 1 month after a regular consultation in the outpatient clinic

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Phenylalanine level (umol/l)	this outcome measure is not study-specific and is collected as part of established routine care (self-measurement by patient)	assessed at the end of the four-day nutrition protocol (see primary outcome)
Plasma amino acid profile	this outcome measure is not study-specific and is collected as part of established routine care.	determined at a routine visit at the outpatient clinic, on average 1x per year
Concentrations of micronutrients, minerals and vitamins	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	determined at a routine visit at the outpatient clinic, on average 1x per year
body weight (kg)	assessed as part of routine clinical care	determined at a routine visit at the outpatient clinic, on average once every 6 - 12 months

Collaborators and Investigators

• Sponsor: University of Zurich
• Investigators: Principal Investigator: Michel Hochuli, MD PhD, University Hospital Zurich, Division of Endocrinology, Diabetes and Clinical Nutrition

Study record dates

Study Major Dates

• Study Start: June 1, 2013
• Primary Completion (Actual): July 1, 2015
• Study Completion (Actual): July 1, 2015

Study Registration Dates

• First Submitted: June 4, 2013
• First Submitted That Met QC Criteria: June 13, 2013
• First Posted (Estimate): June 18, 2013

Study Record Updates

• Last Update Posted (Estimate): February 8, 2016
• Last Update Submitted That Met QC Criteria: February 5, 2016
• Last Verified: February 1, 2016

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Amino Acid Metabolism, Inborn Errors; Phenylketonurias
• Other Study ID Numbers: KEK-ZH-Nr. 2013-0120