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

Launched by UNIVERSITY CHILDREN'S HOSPITAL, ZURICH · Nov 10, 2021

Keywords

ClinConnect Summary

This clinical trial is looking at how well people with Phenylketonuria (PKU) can stick to their treatment plans and how this affects their overall quality of life. PKU is a condition that requires a strict diet to help prevent serious health issues. The study will compare patients who are treated according to different guidelines to see how these guidelines influence treatment adherence, metabolic control (how well their levels of a specific amino acid called phenylalanine are managed), and their health-related quality of life.

To participate, you need to be at least 10 years old and currently following a dietary or medication plan for PKU. Parents of children aged 10 to 18 with PKU can also join. If you decide to participate, you will be asked to complete questionnaires and follow certain study procedures. It’s important to know that those who are pregnant or have certain milder forms of PKU that don’t require treatment won’t be eligible. This trial is currently recruiting participants, and it aims to help improve the understanding of how different treatment approaches affect patients' daily lives and well-being.

Gender

ALL

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