OBJECTIVES: Understanding the patient journey, or spectrum of disease-related events experienced by a patient from symptom onset through diagnosis and treatment, is critical to informing patient-centered care. We sought to investigate how patient journeys are characterized in rare disease.

METHODS: We conducted a targeted literature review (TLR) to explore rare disease patient journey study designs, methods, and outcome trends. We utilized PubMed to query English-language articles published from January 1, 2018, to October 31, 2023. We prioritized peer-reviewed observational studies, clinical trials, and reviews. We abstracted details on disease condition, study design, location, data collection method, journey stage (disease awareness, pre-diagnosis/screening, diagnosis, treatment, adherence), and reported outcome types and performed descriptive analyses.

RESULTS: Ten publications (n=10) were selected, encompassing 16 rare diseases. Immune-related conditions were the most studied (3/16, 19%). The majority of studies employed a prospective observational study design (6/10, 60%) and 70% were conducted in Europe (7/10). While 20% (2/10) of studies reported more than 1 data collection method, patient survey was the most common reported overall (6/10 studies). For journey stages, all 10 studies investigated ‘pre-diagnosis/screening’ and ‘diagnosis,’ 70% investigated ‘treatment,’ and no studies investigated ‘awareness’ or ‘adherence.’ All studies (10/10) reported multiple outcomes, with a total of 44 reported. Pre- and post-diagnosis ‘symptoms’ were the most frequently examined outcome (10/44, 23%), followed by ‘disease-related quality of life’ (9/44, 20%) and ‘healthcare resource utilization’ (7/44, 16%). Few studies assessed economic burden outcomes such as ‘costs’ (2/44, 5%), ‘productivity’ (2/44, 5%), or ‘caregiver/family burden’ (2/44, 5%).

CONCLUSIONS: This TLR revealed that rare disease patient journey assessments primarily use patient surveys, emphasizing symptoms and quality of life through diagnosis. Treatment adherence, productivity, and family impacts are less explored and may warrant further research to facilitate comprehensive patient care.