Phenylketonuria (PKU) and Hyperphenylalaninemia Clinical Trial
Official title:
Nutrition Status of Adult and Adolescent Patients With Classical Phenylketonuria (PKU) and Hyperphenylalaninemia
| Verified date | February 2016 |
| Source | University of Zurich |
| Contact | n/a |
| Is FDA regulated | No |
| Health authority | Switzerland: Swissmedic |
| Study type | Observational |
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.
| Status | Completed |
| Enrollment | 30 |
| Est. completion date | July 2015 |
| Est. primary completion date | July 2015 |
| Accepts healthy volunteers | No |
| Gender | Both |
| Age group | 16 Years and older |
| Eligibility |
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) |
Observational Model: Cohort, Time Perspective: Cross-Sectional
| Country | Name | City | State |
|---|---|---|---|
| Switzerland | University Children's Hospital | Zurich | |
| Switzerland | University Hospital Zurich, Division of Endocrinology, Diabetes and Clinical Nutrition | Zurich | ZH |
| Lead Sponsor | Collaborator |
|---|---|
| University of Zurich |
Switzerland,
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | 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 | No |
| Secondary | Phenylalanine level (umol/l) | this outcome measure is not study-specific and is collected as part of established routine care (self-measurement by patient) | assessed at the end of the four-day nutrition protocol (see primary outcome) | No |
| Secondary | Plasma amino acid profile | this outcome measure is not study-specific and is collected as part of established routine care. | determined at a routine visit at the outpatient clinic, on average 1x per year | No |
| Secondary | Concentrations of micronutrients, minerals and vitamins | 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 | No |
| Secondary | body weight (kg) | assessed as part of routine clinical care | determined at a routine visit at the outpatient clinic, on average once every 6 - 12 months | No |