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Digital health technologies, including mobile apps,\u00a0tele health, and data\u2011sharing 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\u2011centered digital solutions among individuals living with rare diseases and their families. Using a mixed\u2011methods 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\u2011generated 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\u2011centered tools for diagnosis and emergency situations. Future digital solutions should integrate system\u2011wide 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\u2011related barriers that must be addressed to advance patient\u2011centered digital solutions for rare diseases and guide future research and policy development.<\/jats:p>","DOI":"10.1371\/journal.pdig.0001240","type":"journal-article","created":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T17:37:44Z","timestamp":1790617064000},"page":"e0001240","update-policy":"https:\/\/doi.org\/10.1371\/journal.pdig.corrections_policy","source":"Crossref","is-referenced-by-count":0,"title":["Exploring needs and priorities in digital health management for rare disease patients and their caregivers: A mixed-methods study"],"prefix":"10.1371","volume":"5","author":[{"given":"Anita","family":"Burgun","sequence":"first","affiliation":[{"name":"Universit\u00e9 de Sherbrooke","place":["Sherbrooke, Qu\u00e9bec, Canada"],"department":["Groupe de Recherche Interdisciplinaire en Informatique de la Sant\u00e9, Faculty of Sciences\/Faculty of Medicine and Health Sciences"]},{"name":"Clinical Bioinformatics Group, Imagine Institute, Necker Hospital, Assistance Publique-H\u00f4pitaux de Paris","place":["Paris, France"]},{"name":"Universit\u00e9 de Paris-Cit\u00e9","place":["Paris, France"],"department":["Department of Medical Informatics, Faculty of Medicine"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Khnaisser","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Sherbrooke","place":["Sherbrooke, Qu\u00e9bec, Canada"],"department":["Groupe de Recherche Interdisciplinaire en Informatique de la Sant\u00e9, Faculty of Sciences\/Faculty of Medicine and Health Sciences"]},{"name":"Universit\u00e9 de Sherbrooke","place":["Qu\u00e9bec, Canada"],"department":["Department of Informatics, Faculty of Sciences"]},{"name":"Universit\u00e9 de Sherbrooke","place":["Qu\u00e9bec, Canada"],"department":["Department of Medicine, Faculty of Medicine and Health Sciences"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1444-553X","authenticated-orcid":true,"given":"Roxanne","family":"Dault","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Sherbrooke","place":["Sherbrooke, Qu\u00e9bec, Canada"],"department":["Groupe de Recherche Interdisciplinaire en Informatique de la Sant\u00e9, Faculty of Sciences\/Faculty of Medicine and Health Sciences"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9408-0109","authenticated-orcid":true,"given":"Jean-Fran\u00e7ois","family":"Ethier","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Sherbrooke","place":["Sherbrooke, Qu\u00e9bec, Canada"],"department":["Groupe de Recherche Interdisciplinaire en Informatique de la Sant\u00e9, Faculty of Sciences\/Faculty of Medicine and Health Sciences"]},{"name":"Universit\u00e9 de Sherbrooke","place":["Qu\u00e9bec, Canada"],"department":["Department of Medicine, Faculty of Medicine and Health Sciences"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2026,9,28]]},"reference":[{"key":"pdig.0001240.ref001","unstructured":"What are Rare Diseases? | Rare Diseases Clinical Research Network [Internet]. 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