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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
Sponsor:
Information provided by (Responsible Party):

Study Description
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.


Condition or disease
Phenylketonuria (PKU) and Hyperphenylalaninemia

Study Design

Study Type : Observational
Actual Enrollment : 30 participants
Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: Nutrition Status of Adult and Adolescent Patients With Classical Phenylketonuria (PKU) and Hyperphenylalaninemia
Study Start Date : June 2013
Primary Completion Date : July 2015
Study Completion Date : July 2015


Groups and Cohorts


Outcome Measures

Primary Outcome Measures :
  1. 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 Outcome Measures :
  1. 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)

  2. 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.

  3. 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


  4. 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


Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   16 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with phenylketonuria or hyperphenylalaninemia, in treatment at the participating centres
Criteria

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)

Contacts and Locations

Information from the National Library of Medicine

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


Locations
Switzerland
University Hospital Zurich, Division of Endocrinology, Diabetes and Clinical Nutrition
Zurich, ZH, Switzerland, 8091
University Children's Hospital
Zurich, Switzerland, CH-8032
Sponsors and Collaborators
University of Zurich
Investigators
Principal Investigator: Michel Hochuli, MD PhD University Hospital Zurich, Division of Endocrinology, Diabetes and Clinical Nutrition
More Information

Responsible Party: University of Zurich
ClinicalTrials.gov Identifier: NCT01879995     History of Changes
Other Study ID Numbers: KEK-ZH-Nr. 2013-0120
First Posted: June 18, 2013    Key Record Dates
Last Update Posted: February 8, 2016
Last Verified: February 2016

Additional relevant MeSH terms:
Phenylketonurias
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases