Phenylketonuria and Hyperphenylalaninemia Nutrition Study

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.

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Key information

Conditions

Phenylketonuria (PKU) and Hyperphenylalaninemia Amino Acid Metabolism, Inborn Errors Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Phenylketonurias

Age range

16 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

University Hospital Zurich, Division of Endocrinology, Diabetes and Clinical Nutrition, Zurich, Canton of Zurich, Switzerland

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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)

Treatment and study plan

Primary outcomes

Macronutrient and micronutrient intake, calculated from a nutrition protocol (four consecutive days)

Time frame: 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 outcomes

Phenylalanine level (umol/l)

Time frame: 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)
Plasma amino acid profile

Time frame: 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

Time frame: 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
body weight (kg)

Time frame: determined at a routine visit at the outpatient clinic, on average once every 6 - 12 months

assessed as part of routine clinical care

Sponsors and collaborators

Lead sponsor

University of Zurich

Other

Registry information

Official study title

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

Important dates

Study start: 2013
Primary completion: 2015
Study completion: 2015
First posted: Jun 18, 2013
Registry last updated: Feb 8, 2016

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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