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NCT Number: NCT05128149

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

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

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Key information

Conditions

Phenylketonurias Amino Acid Metabolism, Inborn Errors Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases

Age range

10 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

University Childrens Hospital Zürich

Zurich, 8032, Switzerland

Location status: Recruiting

Location contact

Martina Huemer, Prof

CONTACT

[email protected]

+41442667593

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

No intervention

Other

no intervention

Primary outcomes

  1. Phe values

    Time frame: report on measurements from past 24 months

    biochemical marker for PKU

Secondary outcomes

  1. Health-related quality of life

    Time frame: one hour

    PKU-QoL© Questionnaire

  2. Self-efficacy

    Time frame: one hour

    10 items Self-efficacy scale (Schwarzer& Jerusalem)

  3. Burden on family (patients from 10-18 years)

    Time frame: one hour

    Revised Impact on Family Scale

Study contacts

Contact information is provided by the study sponsor or research team.

Martina Huemer, Prof

CONTACT

[email protected]

+41 44 2660

Sponsors and collaborators

Lead sponsor

University Children's Hospital, Zurich

Other

Collaborators

  • Insel Gruppe AG, University Hospital Bern
  • UChildrenVienna
  • University Children's Hospital Basel

Registry information

Acronym: PKU_Guide

Important dates

Study start
2021
Primary completion
2025
Study completion
2025
First posted
Nov 19, 2021
Registry last updated
Apr 13, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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