Measuring health-related quality of life in Pompe disease

Development and validation of a standardized assessment instrument for health-related quality of life (HrQoL) in children and adolescents with Pompe disease (PD): a joint effort of patients, caregivers and metabolic experts

Principal investigators: Prof. Dr. M. Huemer, Prof. Dr. M. Landolt, PD Dr. phil H. Werner

Funding: Sanofi Aventis

Duration of project: March 2021 – February 2024

Pompe disease is a very rare disease that, if left untreated, leads to progressive degeneration of striated muscles in the whole body and, in some patients, in the heart muscle as well. For almost 15 years, a very costly enzyme replacement therapy has been available as the only treatment option. Although this treatment leads to longer survival for certain groups of patients, it does not provide a cure and patients show a very variable response. Therefore, the assessment of its effectiveness remains complex. In this context, it is important to measure the health-related quality of life of patients as an outcome, which should be done by means of a standardized, valid and disease-specific instrument.

Such an instrument does not yet exist for Pompe disease. Thus, the aim of this project is to develop a specific questionnaire for the health-related quality of life of children and adolescents with Pompe disease in contact with patients, parents as well as medical professionals. In a first part of the study, relevant contents will be identified in interviews / focus groups (group discussions) and a subsequent qualitative analysis, from which a first version of the questionnaire will be developed. This will then be discussed back in a small group of patients and parents to see if the content validity is good from their point of view and if the questions are understandable. According to the feedback, the questionnaire will be adapted. In the second part of the study, the second version of the questionnaire will be tested in a larger group and the quality of the questionnaire will be evaluated by means of a quantitative psychometric analysis.

Due to the rarity of the disease we will recruit patients at several centres in Switzerland (Zurich), Germany (Giessen, Mainz) and Austria (Vienna, Innsbruck, Bregenz and Salzburg).

Contact: moritz.truninger@kispi.uzh.ch