Phenylketonuria and Hyperphenylalaninemia Nutrition Study
Nutrition Status of Adult and Adolescent Patients With Classical Phenylketonuria (PKU) and Hyperphenylalaninemia
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.
Panoramica dello studio
Stato
Condizioni
Intervento / Trattamento
Tipo di studio
Iscrizione (Effettivo)
Contatti e Sedi
Luoghi di studio
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Zurich, Svizzera, CH-8032
- University Children's Hospital
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ZH
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Zurich, ZH, Svizzera, 8091
- University Hospital Zurich, Division of Endocrinology, Diabetes and Clinical Nutrition
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Criteri di partecipazione
Criteri di ammissibilità
Età idonea allo studio
Accetta volontari sani
Sessi ammissibili allo studio
Metodo di campionamento
Popolazione di studio
Descrizione
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)
Piano di studio
Come è strutturato lo studio?
Dettagli di progettazione
Cosa sta misurando lo studio?
Misure di risultato primarie
Misura del risultato |
Misura Descrizione |
Lasso di tempo |
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Macronutrient and micronutrient intake, calculated from a nutrition protocol (four consecutive days)
Lasso di tempo: assessed during 4 consecutive days max. within 1 month after a regular consultation in the outpatient clinic
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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
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Misure di risultato secondarie
Misura del risultato |
Misura Descrizione |
Lasso di tempo |
|---|---|---|
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Phenylalanine level (umol/l)
Lasso di tempo: assessed at the end of the four-day nutrition protocol (see primary outcome)
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this outcome measure is not study-specific and is collected as part of established routine care (self-measurement by patient)
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assessed at the end of the four-day nutrition protocol (see primary outcome)
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Plasma amino acid profile
Lasso di tempo: determined at a routine visit at the outpatient clinic, on average 1x per year
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this outcome measure is not study-specific and is collected as part of established routine care.
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determined at a routine visit at the outpatient clinic, on average 1x per year
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Concentrations of micronutrients, minerals and vitamins
Lasso di tempo: determined at a routine visit at the outpatient clinic, on average 1x per year
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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 |
determined at a routine visit at the outpatient clinic, on average 1x per year
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body weight (kg)
Lasso di tempo: determined at a routine visit at the outpatient clinic, on average once every 6 - 12 months
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assessed as part of routine clinical care
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determined at a routine visit at the outpatient clinic, on average once every 6 - 12 months
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Collaboratori e investigatori
Sponsor
Investigatori
- Investigatore principale: Michel Hochuli, MD PhD, University Hospital Zurich, Division of Endocrinology, Diabetes and Clinical Nutrition
Studiare le date dei record
Studia le date principali
Inizio studio
Completamento primario (Effettivo)
Completamento dello studio (Effettivo)
Date di iscrizione allo studio
Primo inviato
Primo inviato che soddisfa i criteri di controllo qualità
Primo Inserito (Stima)
Aggiornamenti dei record di studio
Ultimo aggiornamento pubblicato (Stima)
Ultimo aggiornamento inviato che soddisfa i criteri QC
Ultimo verificato
Maggiori informazioni
Termini relativi a questo studio
Termini MeSH pertinenti aggiuntivi
- Malattie metaboliche
- Malattie del cervello
- Malattie del sistema nervoso centrale
- Malattie del sistema nervoso
- Malattie genetiche, congenite
- Metabolismo, errori congeniti
- Malattie cerebrali, metaboliche
- Malattie cerebrali, metaboliche, congenite
- Metabolismo degli aminoacidi, errori congeniti
- Fenilchetonuria
Altri numeri di identificazione dello studio
- KEK-ZH-Nr. 2013-0120
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