PhenylketonuriasPKU_GuideNCT05128149
Metabolic Control and Patient Well-being in Phenylketonuria: do Guidelines Make a Difference?
An observational study of Phenylketonurias, run by University Children's Hospital, Zurich at 1 site in Switzerland.
Trial 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. Read more about this study
- Who is it for?
- Ages 10 years and older
- Conditions the study is for
- Phenylketonurias
- How many people
- 200 participants
- Where
- 1 siteSwitzerland
- Study dates
- 15 Nov 2021to 31 Dec 2025
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 10 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: PKU patients > 10 years and their parents
Who may be able to join
None listed.
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Switzerland1 site, 1 recruiting
- Recruiting
University Childrens Hospital Zürich
Zurich, 8032
Martina Huemer, Prof, +41442667593, martina.huemer@kispi.uzh.ch
About this study
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
- Being tested
- no intervention
- Medical subject headings
- Phenylketonurias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
no interventionOther
no intervention
What is being measured
The primary outcome is the main question the study is designed to answer.
Phe values
biochemical marker for PKU
Measured: report on measurements from past 24 months
Secondary outcomes (3)
Health-related quality of life
PKU-QoL© Questionnaire
Measured: one hour
Self-efficacy
10 items Self-efficacy scale (Schwarzer\& Jerusalem)
Measured: one hour
Burden on family (patients from 10-18 years)
Revised Impact on Family Scale
Measured: one hour
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Nov 2021
- Study start15 Nov 2021
- Primary completion30 Mar 2025
- Study completion31 Dec 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for PhenylketonuriasStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Children's Hospital, Zurich
- Sponsor type
- University, hospital or other
- Collaborators
- UChildrenVienna, University Children's Hospital Basel, Insel Gruppe AG, University Hospital Bern
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05128149
- Sponsor's protocol ID
- PKU_Guide
- Acronym
- PKU_Guide
- Status last verified
- Apr 2025
- First submitted
- 22 Sep 2021
- Last updated
- 13 Apr 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 13 Apr 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Metabolic Control and Patient Well-being in Phenylketonuria: do Guidelines Make a Difference?
- ClinicalTrials.gov ID
- NCT05128149
- Acronym / sponsor ID
- PKU_Guide / PKU_Guide
- Conditions
- Phenylketonurias
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- University Children's Hospital, ZurichUniversity, hospital or other
- Collaborators
- UChildrenVienna, University Children's Hospital Basel, Insel Gruppe AG, University Hospital Bern
- Study start
- 15 Nov 2021 (actual)
- Primary completion
- 30 Mar 2025 (actual)
- Study completion
- 31 Dec 2025 (estimated)
- First posted
- 19 Nov 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 10 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- PKU patients > 10 years and their parents
Key inclusion criteria (0 listed)
Key exclusion criteria (4 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| no interventionno intervention | Other | – |
Primary outcome
Phe values
Time frame: report on measurements from past 24 months
biochemical marker for PKU
3 secondary outcomes
Health-related quality of life
Time frame: one hour
Self-efficacy
Time frame: one hour
Burden on family (patients from 10-18 years)
Time frame: one hour
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Apr 2025.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Phenylketonurias, run by University Children's Hospital, Zurich at 1 site in Switzerland.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 0 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 13 Apr 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Switzerland. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Martina Huemer, Prof (+41 44 2660, martina.huemer@kispi.uzh.ch), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Phe values (time frame: report on measurements from past 24 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Apr 2025.