Patient reported outcome measures in inborn errors of metabolism

Principal investigators: Prof. Dr. M. Huemer, Prof. Dr. M. Landolt,

Collaborators: Dr. N. Zeltner, Prof. Dr. M. Baumgartner

Duration of project: October 2018 – September 2021

lnborn errors of metabolism (IEM) are a heterogeneous group of rare, sometimes debilitating or even fatal diseases. In IEM, both definition and assessment of meaningful outcome parameters is difficult resulting in a limited body of evidence.

The aim of this project is the selection and psychometrical validation of relevant patient (and parent) reported outcome measurements (PROMs) in paediatric IEM patients and their families.

A final toolbox will contain a handbook on how to develop PROMs and measurement instruments for paediatric IEM. Furthermore, it will contain an overview list of relevant PROMs on different dimensions (physical, emotional, cognitive, and social).

The relevance of PROMs in IEM patients and their families will be assessed via Delphi method, whereby experts in the field of IEM (physicians, psychologists, and nutritionists), patient representatives and patients and their families will be included. In a cross-sectional study the selected PROMs will then be psychometrically tested and risk factor analyses will be conducted.

Contact: florin.boesch@kispi.uzh.ch