Assessment of Patient Journeys in Rare Diseases

This technical report investigates the characterization of patient journeys in rare diseases through a targeted literature review. The study aims to understand how these journeys are assessed, focusing on the methodologies and outcomes reported in existing literature. The review identifies ten publications covering sixteen rare diseases, with a notable emphasis on immune-related conditions. The most common data collection method utilized in these studies was patient surveys, primarily assessing symptoms and quality of life. The report outlines that all studies examined the stages of 'Pre-Diagnosis/Screening' and 'Diagnosis,' while other stages such as 'Awareness' and 'Adherence' were not assessed. It also highlights that the majority of studies reported on multiple outcomes, with symptoms and quality of life being the most frequently evaluated. The findings suggest that aspects like treatment adherence and family impact are less explored, indicating potential areas for further research to enhance patient-centered care.