Exploring needs and priorities in digital health management for rare disease patients and their caregivers: A mixed-methods study.

Abstract

Rare diseases affect millions worldwide and are associated with long diagnostic delays, limited access to treatments, and substantial challenges in daily care and coordination. Digital health technologies, including mobile apps, tele health, and data‑sharing platforms, offer opportunities to improve care and quality of life for people living with rare diseases. As these tools rapidly expand, this study examines the needs, expectations, and conditions for successful adoption of patient‑centered digital solutions among individuals living with rare diseases and their families. Using a mixed‑methods design, we surveyed 149 patients and caregivers, and conducted follow-up focus groups with 15 participants. Our findings highlight the essential role of digital tools in supporting people with rare diseases and their families. Key priorities include centralized health data, support for patient‑generated data, and improved communication and information exchange with clinicians. Participants strongly emphasized the value of telehealth to reduce travel and simplify daily life, as well as patient‑centered tools for diagnosis and emergency situations. Future digital solutions should integrate system‑wide data, incorporate AI, and provide support during stressful situations, ultimately reducing patient burden despite persistent structural challenges. Respondents expressed strong interest in technologies that place patients at the center of care and improve coordination across providers. Overall, our study identifies actionable targets for innovation and highlights technological, regulatory, and resource‑related barriers that must be addressed to advance patient‑centered digital solutions for rare diseases and guide future research and policy development.