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

NCT05128149 | Recruiting

• 1 other identifier: PKU_Guide
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Phenylketonurias

Outcome Measures

Primary Outcomes (1)

• Phe values

  biochemical marker for PKU

  report on measurements from past 24 months

Secondary Outcomes (3)

• Health-related quality of life

  one hour

• Self-efficacy

  one hour

• Burden on family (patients from 10-18 years)

  one hour

Interventions

no intervention OTHER

no intervention

Eligibility Criteria

• Age: 10 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

PKU patients \> 10 years and their parents

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University Children's Hospital, Zurich: lead
• UChildrenVienna: collaborator
• University Children's Hospital Basel: collaborator
• Insel Gruppe AG, University Hospital Bern: collaborator

Study Sites (1)

University Childrens Hospital Zürich

Zurich, 8032, Switzerland

RECRUITING

MeSH Terms

Conditions

Phenylketonurias

Condition Hierarchy (Ancestors)

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

Central Study Contacts

Martina Huemer, Prof

CONTACT

+41 44 2660; martina.huemer@kispi.uzh.ch

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 22, 2021
• First Posted: November 19, 2021
• Study Start: November 15, 2021
• Primary Completion: March 30, 2025
• Study Completion: December 31, 2025
• Last Updated: April 13, 2025

Record last verified: 2025-04

Data Sharing

• IPD Sharing: Will not share

Locations

CH (1)