Patient-centred decision-making for rare diseases

Ethical and Legal Framework & Patient Engagement An ELSI toolkit (ethical, legal, and societal implications) and patient engagement guidelines are being developed based on literature reviews, stakeholder focus groups, and co-creation workshops. The goal is to ensure ethical and inclusive data collection in rare disease research. Questionnaire Validation, Distribution and Analysis A cross-disease questionnaire is being adapted and validated to identify patient-reported unmet needs. The design ensures inclusivity, user-friendliness, and suitability for both digital and low-literacy contexts. Patient testing and integration into clinical systems are part of the process. In collaboration with UZ Leuven, methods are being developed for (digital) distribution of the questionnaire and for collecting and analysing the results. Policy Translation & Decision Support Patient-reported data are being translated into actionable tools and guidelines for research, reimbursement, and care optimisation. Close collaboration with HTA bodies, regulatory authorities, and clinicians ensures practical application in healthcare decision-making.