Patient reported outcomes of child and adult rare disease patients

Principal investigator: Prof. Dr. M. Landolt

Funding: URPP ITINERARE

Duration of project: June 2021 – December 2024

Rare diseases represent a group of over 7.000 heterogeneous disorders with strong clinical impact and major social and economic consequences. Despite their name, rare diseases affect 400 million people worldwide, and about 500.000 in Switzerland. Due to the early onset of symptoms, rare diseases predominantly affect children, often causing premature death or decades of life with chronic disability. Rare diseases thus have major consequences for those who are directly affected, as well as their families and social environment. However, the assessment of meaningful outcome parameters in rare disease populations is limited.

So-called patient reported outcome measures (PROMs) are questionnaires that capture a patients’ perception of their physical health status and their mental well-being. PROMs are an important tool in order to gain insight into the subjective experience of patients. Such instruments only rarely exist in rare disease groups. The aim of this project is to develop PROMs for adults and pediatric rare disease populations and validate the respective instruments.

Contact: susanne.wehrli@kispi.uzh.ch