Capturing Real-World Rare Disease Patient Journeys

This technical report assesses the body of evidence regarding patient journeys in rare diseases through a systematic literature review (SLR). The study aims to explore various methodologies, study designs, and outcome trends related to the experiences of patients diagnosed with rare conditions. The review included a total of 31 publications, which collectively involved 296,548 participants across over 600 rare diseases. The majority of studies were prospective observational, with a significant focus on the pre-diagnosis and diagnosis stages of the patient journey. Common data collection methods included interviews and surveys, while the most frequently reported outcomes were related to healthcare resource utilization. The report identifies gaps in the literature, particularly concerning treatment adherence and caregiver burden. It emphasizes the importance of capturing real-world patient experiences to inform healthcare decision-making and improve care guidelines. The findings suggest that longitudinal assessments could enhance understanding of the patient journey in rare diseases.