Phenylketonuria and Hyperphenylalaninemia Nutrition Study

NCT01879995 | Completed

• 1 other identifier: KEK-ZH-Nr. 2013-0120
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 2

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.

Conditions

Phenylketonuria (PKU) and Hyperphenylalaninemia

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (4)

• Phenylalanine level (umol/l)

  assessed at the end of the four-day nutrition protocol (see primary outcome)

• Plasma amino acid profile

  determined at a routine visit at the outpatient clinic, on average 1x per year

• Concentrations of micronutrients, minerals and vitamins

  determined at a routine visit at the outpatient clinic, on average 1x per year

• body weight (kg)

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

Eligibility Criteria

• Age: 16 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• University of Zurich: lead

Study Sites (2)

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

Zurich, Canton of Zurich, 8091, Switzerland

Location

University Children's Hospital

Zurich, CH-8032, Switzerland

Location

MeSH Terms

Conditions

Phenylketonurias

Condition Hierarchy (Ancestors)

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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Michel Hochuli, MD PhD

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

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 4, 2013
• First Posted: June 18, 2013
• Study Start: June 1, 2013
• Primary Completion: July 1, 2015
• Study Completion: July 1, 2015
• Last Updated: February 8, 2016

Record last verified: 2016-02

Locations

CH (2)