RecruitingNCT05128149

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

Sponsor

University Children's Hospital, Zurich

Enrollment

200 participants

Start Date

Nov 15, 2021

Study Type

OBSERVATIONAL

Conditions

Phenylketonurias

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

Eligibility

Min Age: 10 Years

Plain Language Summary

Simplified for easier understanding

This study looks at how treatment guidelines for phenylketonuria (PKU) — a genetic metabolic disorder where the body cannot process the amino acid phenylalanine — affect patient health outcomes and quality of life. PKU requires a very strict diet and sometimes medication. Researchers will compare outcomes in patients following different national guidelines to find out which approaches work best. You may be eligible if... - You are 10 years or older and have PKU requiring dietary and/or drug treatment - OR you are a parent of a child aged 10–18 with PKU requiring treatment - You are willing and able to fill out questionnaires and follow study procedures You may NOT be eligible if... - You have a very mild form of PKU that does not require treatment - You are pregnant or planning a pregnancy soon - You are unable to follow study procedures due to language difficulties or severely reduced health Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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