Publications by authors named "Moritz Ilan Truninger"
Orphanet J Rare Dis
September 2024
Article Synopsis
- Children and adolescents with Pompe disease (PD) experience significant myopathy that requires intensive enzyme replacement therapy (ERT), but little is known about their views on the disease and treatment.
- A study involving interviews with 11 pediatric patients and 26 caregivers highlighted diverse perceptions of symptoms and their social impacts, showing that even mild limitations can be frustrating for patients.
- Participants generally felt relieved by the transition from hospital to home-based ERT, emphasizing improvements in daily life and emotional well-being, although their emotional responses varied widely.
J Inherit Metab Dis
November 2024
Article Synopsis
- Genetic disorders create lifelong challenges for individuals and families, requiring ongoing medical support, particularly for children with Pompe disease (PD) who often struggle in physical activities.
- The study presents the PompeQoL 1.0 questionnaire, developed to assess both disease-specific functioning and health-related quality of life (HRQoL) through self-reports and parent-proxy reports, ensuring content validity through patient and parent feedback.
- With 52 selected items showing strong reliability and initial validation, the PompeQoL questionnaire is a significant tool for clinical and research use, although further testing and revisions are needed for broader application.
