Metabolic Control and Patient Well-being in Phenylketonuria: do Guidelines Make a Difference?

University Children's Hospital, Zurich200 enrolled

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

Study Type

OBSERVATIONAL

Enrollment

200

Conditions

Phenylketonurias

Interventions

no interventionOTHER

no intervention

Medical Language ↔ Plain English

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

Outcomes

Primary Outcomes

Phe values

biochemical marker for PKU

Time frame: report on measurements from past 24 months

Secondary Outcomes

Health-related quality of life

Time frame: one hour

Self-efficacy

10 items Self-efficacy scale (Schwarzer\& Jerusalem)

Time frame: one hour

Burden on family (patients from 10-18 years)

Revised Impact on Family Scale

Time frame: one hour

Metabolic Control and Patient Well-being in Phenylketonuria: do Guidelines Make a Difference?

Overview

Conditions

Interventions

Eligibility

Locations (1)

Outcomes

Primary Outcomes

Secondary Outcomes

Central Contacts