Phenylketonuria and Hyperphenylalaninemia Nutrition Study
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|ClinicalTrials.gov Identifier: NCT01879995|
Recruitment Status : Completed
First Posted : June 18, 2013
Last Update Posted : February 8, 2016
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.
|Condition or disease|
|Phenylketonuria (PKU) and Hyperphenylalaninemia|
|Study Type :||Observational|
|Actual Enrollment :||30 participants|
|Official Title:||Nutrition Status of Adult and Adolescent Patients With Classical Phenylketonuria (PKU) and Hyperphenylalaninemia|
|Study Start Date :||June 2013|
|Actual Primary Completion Date :||July 2015|
|Actual Study Completion Date :||July 2015|
- 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 ]
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
- 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
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01879995
|University Hospital Zurich, Division of Endocrinology, Diabetes and Clinical Nutrition|
|Zurich, ZH, Switzerland, 8091|
|University Children's Hospital|
|Zurich, Switzerland, CH-8032|
|Principal Investigator:||Michel Hochuli, MD PhD||University Hospital Zurich, Division of Endocrinology, Diabetes and Clinical Nutrition|