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

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 Overview

• Status: Recruiting
• Conditions: Phenylketonurias
• Intervention / Treatment: Other: no intervention

• Study Type: Observational
• Enrollment (Estimated): 200

Contacts and Locations

• Study Contact: Name: Martina Huemer, Prof; Phone Number: +41 44 2660; Email: martina.huemer@kispi.uzh.ch

Study Locations

• Switzerland
  • Zürich, Switzerland, 8032
    • Recruiting
    • University Childrens Hospital Zurich
    • Contact: Martina Huemer, Prof; Phone Number: +41442667593; Email: martina.huemer@kispi.uzh.ch

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 10 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

PKU patients > 10 years and their parents

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Cross-Sectional

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Phe values	biochemical marker for PKU	report on measurements from past 24 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Health-related quality of life	PKU-QoL© Questionnaire	one hour
Self-efficacy	10 items Self-efficacy scale (Schwarzer& Jerusalem)	one hour
Burden on family (patients from 10-18 years)	Revised Impact on Family Scale	one hour

Collaborators and Investigators

• Sponsor: University Children's Hospital, Zurich
• Collaborators: University Children's Hospital Basel; UChildrenVienna; Insel Gruppe AG, University Hospital Bern

Study record dates

Study Major Dates

• Study Start (Actual): November 15, 2021
• Primary Completion (Estimated): June 30, 2024
• Study Completion (Estimated): December 31, 2024

Study Registration Dates

• First Submitted: September 22, 2021
• First Submitted That Met QC Criteria: November 10, 2021
• First Posted (Actual): November 19, 2021

Study Record Updates

• Last Update Posted (Actual): December 5, 2023
• Last Update Submitted That Met QC Criteria: December 4, 2023
• Last Verified: December 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Amino Acid Metabolism, Inborn Errors; Phenylketonurias
• Other Study ID Numbers: PKU_Guide

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No