Phenylketonuria and Hyperphenylalaninemia Nutrition Study

This study is currently recruiting participants. (see Contacts and Locations)
Verified June 2013 by University of Zurich
Sponsor:
Information provided by (Responsible Party):
University of Zurich
ClinicalTrials.gov Identifier:
NCT01879995
First received: June 4, 2013
Last updated: June 13, 2013
Last verified: June 2013
  Purpose

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
Phenylketonuria (PKU) and Hyperphenylalaninemia

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: Nutrition Status of Adult and Adolescent Patients With Classical Phenylketonuria (PKU) and Hyperphenylalaninemia

Resource links provided by NLM:


Further study details as provided by University of Zurich:

Primary Outcome Measures:
  • 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 ] [ Designated as safety issue: No ]

    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:
  • Phenylalanine level (umol/l) [ Time Frame: assessed at the end of the four-day nutrition protocol (see primary outcome) ] [ Designated as safety issue: No ]
    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 ] [ Designated as safety issue: No ]
    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 ] [ Designated as safety issue: No ]

    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 ] [ Designated as safety issue: No ]
    assessed as part of routine clinical care


Estimated Enrollment: 70
Study Start Date: June 2013
Estimated Study Completion Date: July 2015
Estimated Primary Completion Date: July 2015 (Final data collection date for primary outcome measure)
  Eligibility

Ages Eligible for Study:   16 Years and older
Genders Eligible for Study:   Both
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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01879995

Contacts
Contact: Michel Hochuli, MD PhD michel.hochuli@usz.ch

Locations
Switzerland
University Hospital Zurich, Division of Endocrinology, Diabetes and Clinical Nutrition Recruiting
Zurich, ZH, Switzerland, 8091
Contact: Michel Hochuli, MD PhD    0041 44 255 86 26    michel.hochuli@usz.ch   
University Children's Hospital Not yet recruiting
Zurich, Switzerland, CH-8032
Contact: Matthias Baumgartner, MD       matthias.baumgartner@kispi.uzh.ch   
Principal Investigator: Matthias Baumgartner, MD         
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

No publications provided

Responsible Party: University of Zurich
ClinicalTrials.gov Identifier: NCT01879995     History of Changes
Other Study ID Numbers: KEK-ZH-Nr. 2013-0120
Study First Received: June 4, 2013
Last Updated: June 13, 2013
Health Authority: Switzerland: Swissmedic

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

ClinicalTrials.gov processed this record on September 18, 2014