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

NCT ID: NCT05128149

Last Updated: 2025-04-13

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

200 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-11-15

Study Completion Date

2025-12-31

Brief Summary

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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

Detailed Description

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Conditions

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Phenylketonurias

Study Design

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Observational Model Type

COHORT

Study Time Perspective

CROSS_SECTIONAL

Interventions

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no intervention

no intervention

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* 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

* 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
Minimum Eligible Age

10 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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UChildrenVienna

UNKNOWN

Sponsor Role collaborator

University Children's Hospital Basel

OTHER

Sponsor Role collaborator

Insel Gruppe AG, University Hospital Bern

OTHER

Sponsor Role collaborator

University Children's Hospital, Zurich

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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University Childrens Hospital Zürich

Zurich, , Switzerland

Site Status RECRUITING

Countries

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Switzerland

Central Contacts

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Martina Huemer, Prof

Role: CONTACT

+41 44 2660

Facility Contacts

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Martina Huemer, Prof

Role: primary

+41442667593

Other Identifiers

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PKU_Guide

Identifier Type: -

Identifier Source: org_study_id

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