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.
Descripción general del estudio
Estado
Condiciones
Intervención / Tratamiento
Tipo de estudio
Inscripción (Actual)
Contactos y Ubicaciones
Ubicaciones de estudio
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Zurich, Suiza, CH-8032
- University Children's Hospital
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ZH
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Zurich, ZH, Suiza, 8091
- University Hospital Zurich, Division of Endocrinology, Diabetes and Clinical Nutrition
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Criterios de participación
Criterio de elegibilidad
Edades elegibles para estudiar
Acepta Voluntarios Saludables
Géneros elegibles para el estudio
Método de muestreo
Población de estudio
Descripción
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)
Plan de estudios
¿Cómo está diseñado el estudio?
Detalles de diseño
¿Qué mide el estudio?
Medidas de resultado primarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
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Macronutrient and micronutrient intake, calculated from a nutrition protocol (four consecutive days)
Periodo de tiempo: 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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Medidas de resultado secundarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
|---|---|---|
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Phenylalanine level (umol/l)
Periodo de tiempo: 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
Periodo de tiempo: 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
Periodo de tiempo: 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)
Periodo de tiempo: 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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Colaboradores e Investigadores
Patrocinador
Investigadores
- Investigador principal: Michel Hochuli, MD PhD, University Hospital Zurich, Division of Endocrinology, Diabetes and Clinical Nutrition
Fechas de registro del estudio
Fechas importantes del estudio
Inicio del estudio
Finalización primaria (Actual)
Finalización del estudio (Actual)
Fechas de registro del estudio
Enviado por primera vez
Primero enviado que cumplió con los criterios de control de calidad
Publicado por primera vez (Estimar)
Actualizaciones de registros de estudio
Última actualización publicada (Estimar)
Última actualización enviada que cumplió con los criterios de control de calidad
Última verificación
Más información
Términos relacionados con este estudio
Términos MeSH relevantes adicionales
- Enfermedades metabólicas
- Enfermedades Cerebrales
- Enfermedades del Sistema Nervioso Central
- Enfermedades del Sistema Nervioso
- Enfermedades Genéticas Congénitas
- Metabolismo, errores congénitos
- Enfermedades Cerebrales Metabólicas
- Enfermedades Cerebrales Metabólicas Congénitas
- Metabolismo de aminoácidos, errores congénitos
- Fenilcetonurias
Otros números de identificación del estudio
- KEK-ZH-Nr. 2013-0120
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