The Role of Digital Tools and Their Implementation Within Patient Care Pathways for Rare Brain Disorders: The Case of Phenylketonuria

Introduction: The COVID-19 pandemic accelerated the adoption of digital health solutions in healthcare. Phenylketonuria (PKU) is a rare condition requiring chronic management and frequent assessments, making it a useful model for examining how digital health tools support patient and caregiver education, communication with healthcare professionals and facilities, and patient care pathways. Methods: Patient representatives and expert clinicians developed qualitative, co-designed ad hoc surveys during virtual workshops. From October 2023 to March 2024, the surveys were available online through EUSurvey English, Spanish, and German, and distributed to PKU patients in Spain, Germany, and Ireland by national PKU patient associations. Results: The survey co-design process identified crucial topics significant to key stakeholders in rare disease management. Diverse perspectives emerged on the roles and utility of digital tools: (1) rare disease patients may prefer hybrid care models combining face-to-face and digital interactions; (2) digital tools were perceived as particularly useful for supporting information exchange, education, preparation for clinical visits, and patient engagement. Conclusions: This paper examines unmet needs in digital care pathways for PKU from the perspectives of patients, caregivers, and clinicians. Findings provide important insights into the needs of patients with rare diseases and the most effective channels for engaging and communicating with them. Although clinical and cost-effectiveness were not evaluated, these findings could guide future research and policy discussions on incorporating digital solutions into rare diseases patient care pathways.