Metabolic Control and Patient Well-being in Phenylketonuria: do Guidelines Make a Difference?
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: no intervention.
- Who it may be relevant to
- Registry conditions: Phenylketonurias. Basic parameters: from 10 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Switzerland
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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
- Other no intervention
no intervention
Primary outcome measures
- Phe values [Time frame: report on measurements from past 24 months]
Secondary outcome measures (3)
- Health-related quality of life [Time frame: one hour]
- Self-efficacy [Time frame: one hour]
- Burden on family (patients from 10-18 years) [Time frame: one hour]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Switzerland · 1 center
- University Childrens Hospital Zürich — Zurich
Identifiers
NCT: NCT05128149 · PKU_Guide