ENOrphanet Journal of Rare Diseases | Citizen Science in SelEe App Development for Rare Disease Self-Management
Date: April 05, 2025
Classification: Frontiers
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This article develops a mobile health application for rare disease self-management through a three-phase citizen science approach, demonstrating the value and challenges of patient involvement in the development of digital health tools.
Literature Overview
This article, titled 'Co-creation process of an app for people with rare diseases - a citizen science approach', published in the Orphanet Journal of Rare Diseases, reviews and summarizes the development process of the SelEe project. The application was developed through a three-stage co-creation process involving patients and researchers, implementing core functionalities such as health diary, data recording, and export. After its release, the study evaluated its usage and usability. The article provides detailed user statistics, including 3040 downloads, 1456 registered users, and 1967 disease entries, of which 50.7% were rare diseases, 30.5% non-rare diseases, and 18.8% suspected or undiagnosed conditions. The overall usability score (MAUQ) was 5.19 out of 7, and users provided improvement suggestions. Usage patterns showed frequent use of the health diary function, while data recording and export were less frequently used.
Background Knowledge
Rare diseases are defined as diseases with a prevalence of fewer than 1 in 2,000 people in Europe, affecting approximately 3.5%-5.9% of the global population, with 80% having a genetic origin. Due to their low prevalence, rare diseases pose significant challenges in diagnosis, treatment, and multidisciplinary care, including the lack of standardized tools and patient support systems. In recent years, mobile health (mHealth) technologies have been increasingly applied in chronic disease management, but mobile applications targeting rare diseases remain in early development stages, mainly limited by small user bases, limited development incentives, and language support. The SelEe application discussed in this article adopts the 'co-creation' model within citizen science, allowing patients and caregivers to directly participate in research design, requirement analysis, feature development, and evaluation. This approach not only enhances patient involvement in medical technology development but also provides a replicable process for future development of digital health tools for rare diseases. The study highlights that while the app already includes basic functionalities, there remains significant room for improvement in interface design, data export, and template usage. Long-term follow-up studies are needed to assess the app’s actual impact on patient health outcomes.
Research Methods and Findings
The SelEe project was conducted in three stages: the first stage collected research directions and functional requirements from patients and caregivers via email registration and online workshops; the second stage involved an iterative development process led by a core research team including both patients and researchers; the third stage evaluated the app’s usage and usability through one year of data analysis and in-app surveys. Descriptive statistics were used to analyze download numbers, registrations, and disease data entries. Usability was assessed using the mHealth App Usability Questionnaire (MAUQ). The app was launched in March 2023 and supports features such as personalized health diary entries, data export, and template customization, along with accessibility features for visually impaired users.
Key Findings and Insights
Conclusion
SelEe is the first mobile health management application for rare diseases developed using a citizen science approach. Its development process emphasized the central role of patients and caregivers in shaping research design and defining functionalities. The study found that while the app offers solid basic features and usability, further optimization is needed in interface design, data export, and template customization to improve usage rates and user satisfaction. Future studies should extend the observation period to assess the app’s long-term impact on health outcomes across different disease groups and explore multilingual support and standardized disease classification systems (e.g., Orphanet, ICD-10, SNOMED-CT) to enhance data consistency and international applicability. Overall, this study provides a viable pathway for the development of mHealth tools for rare diseases and underscores the importance of patient-driven design in medical technology development.
