Phenylketonurias
Conditions
Brief summary
Treatment of PKU implies for most patients that with strict adherence to dietary treatment they can achieve excellent neurocognitive outcome. Dietary treatment, though, is hard to comply to every day and with every single meal. Unsurprisingly, health-related quality of life (HrQol) is negatively affected if patients have to follow a dietary regime of this kind. Adherence to treatment in PKU is very variable. Factors of significant impact on adherence to treatment and well-being in chronic disease such as self-efficacy or parenting stress have not yet been widely investigated in PKU patients. The ideal treatment prescription (and guideline) recommends as much as necessary and as little as possible, based on the best evidence available. Patients should neither be deprived of treatment options nor be exposed to overtreatment. This study investigates adherence, metabolic control, HrQol in PKU patients treated by centres which follow different guidelines
Interventions
OTHERno intervention
no intervention
Sponsors
UChildrenVienna
University Children's Hospital Basel
Insel Gruppe AG, University Hospital Bern
University Children's Hospital, Zurich
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
10 Years to No maximum
Healthy volunteers
No
Inclusion criteria
- Patients with PKU from age 10 years requiring dietary and / or pharmacological treatment according to locally applied guidelines * Parents of patients with PKU aged 10 to 18 years requiring dietary and / or pharmacological treatment according to locally applied guidelines * Ability and willingness to answer the questionnaires and follow the study procedures * Informed consent as documented by signature
Exclusion criteria
for patients and parents : * Inability to follow the procedures of the study, e.g. due to language problems or severely reduced health status * Pregnant patients or patients who have disclosed to their physician that they are planning a pregnancy in the near future * Hyperphenylalaninaemia or mild forms of PKU or other inborn errors associated with elevated Phe but not requiring dietary and / or pharmacological treatment according to locally applied guidelines * No inform
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Phe values | report on measurements from past 24 months | biochemical marker for PKU |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Health-related quality of life | one hour | PKU-QoL© Questionnaire |
| Self-efficacy | one hour | 10 items Self-efficacy scale (Schwarzer& Jerusalem) |
| Burden on family (patients from 10-18 years) | one hour | Revised Impact on Family Scale |
Countries
Switzerland
Contacts
Primary ContactMartina Huemer, Prof
Outcome results
None listed