Presentation (CTI)

OBJECTIVES: Regulatory guidance for drug development emphasizes the importance of collecting patient experience data (PED) to identify meaningful outcomes, support fit-for-purpose clinical outcome assessment (COA) selection, and interpret/contextualise meaningful change. Qualitative PED is particularly valuable in rare paediatric conditions, where populations are small and often heterogeneous, with developmental trajectories and disease progression that may vary substantially. In addition, meaningful outcomes may evolve as children age, shifting for example from survival, feeding, or sleep to communication, mobility, independence, and future quality of life. We propose a framework outlining methodological considerations and recommendations for generating and interpreting qualitative PED to support outcome selection and exploration of meaningful change in rare paediatric conditions.
METHODS: The framework was developed using principles from the US Food and Drug Administration (FDA) Patient-Focused Drug Development guidance series, the European Medicines Agency (EMA) reflection paper on patient experience data, and learnings from qualitative studies with patients, caregivers, and clinical experts across a range of rare diseases, including in-trial/exit interview studies.
RESULTS: Three considerations were identified: trajectory-based elicitation, contextualized interpretation, and impact-based meaningfulness. Trajectory-based elicitation involves exploring priorities using age- or developmental-stage stratification, probing current and anticipated future priorities, and considering how definitions of meaningful change may shift over time. Contextualized interpretation involves considering meaningful changes in relation to disease course, developmental stage and treatment expectations, supported where possible by longitudinal qualitative data, clinician input, and available natural history evidence. Impact-based meaningfulness emphasizes exploring meaningful change in the context of consequences for child functioning, quality of life, safety, family routines, and caregiver burden.
CONCLUSIONS: This framework provides practical considerations and recommendations for generating and interpreting qualitative PED in rare paediatric conditions. Integrating trajectory-based elicitation, contextualized interpretation, and impact-based meaningfulness may support identification, definition, measurement, and interpretation of meaningful change and inform fit-for-purpose COA selection.