Development of the PKU-PROEM
Research type
Research Study
Full title
Making the invisible, visible: creating a PKU specific Patient Reported Outcome and Experience Measure, the PKU-PROEM
IRAS ID
353320
Contact name
Anita Macdonald
Contact email
Sponsor organisation
Birmingham Women's and Children's NHS Foundation Trust
Duration of Study in the UK
1 years, 7 months, 1 days
Research summary
Phenylketonuria (PKU, OMIM 261600) is an inborn error of metabolism caused by a defect in the liver enzyme phenylalanine hydroxylase (PAH). PAH normally converts phenylalanine (Phe) to tyrosine, using tetrahydrobiopterin (BH4) as a co-substrate. If left untreated, PKU can lead to severe intellectual disability, epilepsy, and behavioral and psychiatric problems. Therefore, a lifelong Phe-restricted diet is the cornerstone of treatment.
Despite early detection via newborn screening and thus early start of treatment, suboptimal outcomes still exist. In addition, the PKU diet remains complex, and can be very burdensome. Several studies have attempted to assess the impact PKU has on patients and their caregivers. The vast majority of studies found a low impact of PKU on the health-related quality of life (HRQoL), often not differing from the normal population.However, we hypothesize that the measurement instruments used in above mentioned studies where not specific and sensitive enough to capture the subjective nature of PKU. Huemer et al. addresses the need for patient reported outcome measures (PROMs) in inborn errors of metabolism, and underlines the importance of PROMs in conditions with a variable presentation like PKU.
To the best of our knowledge, only two validated PKU-specific questionnaires have been developed so far. The PKU-Quality of Life (QoL) mainly focused on dietary management and associated impacts, whereas the PKU-Symptom Severity and Impacts Scale (SSIS) mainly focused on neuropsychological symptoms. Unfortunately, the PKU-QoL is not available anymore, and the PKU-SSIS is a questionnaire developed by a pharmaceutical company which only included classical PKU patients. A PKU-specific PROEM that can be used for everyone is, therefore, lacking. Our aim is to develop a PKU-specific PROEM that is cross-culturally validated, developed together with PKU patients and PKU experts, in order to demonstrate the burden PKU and its treatment on patients.REC name
North West - Greater Manchester Central Research Ethics Committee
REC reference
25/NW/0253
Date of REC Opinion
21 Oct 2025
REC opinion
Further Information Favourable Opinion