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.
Studieoversigt
Status
Betingelser
Intervention / Behandling
Undersøgelsestype
Tilmelding (Faktiske)
Kontakter og lokationer
Studiesteder
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Zurich, Schweiz, CH-8032
- University Children's Hospital
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ZH
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Zurich, ZH, Schweiz, 8091
- University Hospital Zurich, Division of Endocrinology, Diabetes and Clinical Nutrition
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Deltagelseskriterier
Berettigelseskriterier
Aldre berettiget til at studere
Tager imod sunde frivillige
Køn, der er berettiget til at studere
Prøveudtagningsmetode
Studiebefolkning
Beskrivelse
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)
Studieplan
Hvordan er undersøgelsen tilrettelagt?
Design detaljer
Hvad måler undersøgelsen?
Primære resultatmål
Resultatmål |
Foranstaltningsbeskrivelse |
Tidsramme |
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Macronutrient and micronutrient intake, calculated from a nutrition protocol (four consecutive days)
Tidsramme: 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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Sekundære resultatmål
Resultatmål |
Foranstaltningsbeskrivelse |
Tidsramme |
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Phenylalanine level (umol/l)
Tidsramme: 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
Tidsramme: 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
Tidsramme: 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)
Tidsramme: 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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Samarbejdspartnere og efterforskere
Sponsor
Efterforskere
- Ledende efterforsker: Michel Hochuli, MD PhD, University Hospital Zurich, Division of Endocrinology, Diabetes and Clinical Nutrition
Datoer for undersøgelser
Studer store datoer
Studiestart
Primær færdiggørelse (Faktiske)
Studieafslutning (Faktiske)
Datoer for studieregistrering
Først indsendt
Først indsendt, der opfyldte QC-kriterier
Først opslået (Skøn)
Opdateringer af undersøgelsesjournaler
Sidste opdatering sendt (Skøn)
Sidste opdatering indsendt, der opfyldte kvalitetskontrolkriterier
Sidst verificeret
Mere information
Begreber relateret til denne undersøgelse
Yderligere relevante MeSH-vilkår
Andre undersøgelses-id-numre
- KEK-ZH-Nr. 2013-0120
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Kliniske forsøg med Phenylketonuria (PKU) og hyperphenylalaninæmi
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Aptatek BioSciences, IncIkke rekrutterer endnuPhenylketonuria (PKU) og hyperphenylalaninæmi