Orphanet Journal of Rare Diseases | SelEe App: Self-Management Tool Development for Rare Disease Patients Using Mobile Health

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This study successfully developed a health self-management app for rare disease patients through a citizen science approach, highlighting the crucial role of patient involvement in app design. The app features data logging and personalized template creation, offering a new tool for rare disease management. Although further optimization is needed, its usability and functionality have shown initial promise.

 

Literature Overview

This paper, titled 'SelEe App: Self-Management Tool Development for Rare Disease Patients Using Citizen Science Approach,' published in the Orphanet Journal of Rare Diseases, reviews and summarizes the research and development process of the SelEe project in the field of mobile health apps. It reports that the app was downloaded 3040 times within one year, with 1456 users completing registration and 1223 valid user profiles. The app allows users to create personalized health log templates, supports data recording, visualization, and export functions, and is optimized for visually impaired users. The study also reveals variations in user engagement with app features, such as frequent use of health logs but less frequent use of data export and check-up features, suggesting further improvements to enhance adoption.

Background Knowledge

Rare diseases (Rare Diseases, RDs) are defined as diseases affecting fewer than 5 in 10,000 people in the European Union, impacting approximately 3.5%-5.9% of the global population, with 80% being genetic in origin. Due to low prevalence, patients often face challenges such as delayed diagnosis, insufficient multidisciplinary care, and limited treatment options. Mobile health (mHealth) technologies have proven effective in chronic disease management, but their application in rare diseases remains limited, often focusing on specific diseases with single-purpose functions and limited language support. This study aims to directly involve patients and caregivers in the design and development of the SelEe app through citizen science (CS) methods, addressing the lack of personalized tools for rare disease management. The primary objectives are to evaluate app usage, usability, and collect user feedback for further functional optimization.

 

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Research Methods and Experimentation

The study adopted a three-phase development model: Phase one involved collecting feedback from patients and caregivers through workshops to define research objectives and functional requirements; Phase two engaged a core development team (9 members), including patients, caregivers, and researchers, to iteratively develop the app; Phase three focused on assessing app usage and usability after its release (March 2023 to February 2024), using descriptive statistical analysis and the mHealth App Usability Questionnaire (MAUQ) to gather user feedback. All data were analyzed using Microsoft Excel, and internal consistency of the questionnaire was evaluated using Cronbach’s alpha.

Key Findings and Insights

• The app was downloaded 3040 times within one year, with 1456 registered users and 1223 valid profiles. Users span various age groups and disease backgrounds, with 50.7% being rare disease patients, 30.5% non-rare disease, and 18.8% suspected or undiagnosed.
• Main app features include health logs, check-up records, data export, and notification settings. Overall usability score from user feedback was 5.19 out of 7, with frequent use of health logs but lower engagement with check-up and export functions.
• User suggestions include optimizing the interface design, adding automated health data import, improving readability in dark mode, and introducing third-party authentication methods (e.g., Google login).
• The study emphasizes the central role of patients in app development, demonstrating the feasibility of using citizen science methods in digital health tool development for rare diseases, and provides a framework for future app evaluations.

Significance and Future Directions

This study is the first to develop and evaluate a self-management app for rare disease patients using citizen science methods, highlighting the importance of patient involvement in defining and optimizing app features. Future studies could expand to long-term evaluations to analyze changes in usage patterns across different age and disease groups, and explore the app’s real impact on patient health outcomes. Additionally, adding multilingual support and integrating standardized disease classification systems (e.g., ICD-10 or SNOMED-CT) would enhance data standardization. Further functional enhancements, such as automated data synchronization and third-party authentication, would improve user experience and promote broader adoption.

 

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Conclusion

This study demonstrates the potential of the SelEe app in supporting self-management among rare disease patients. Through a citizen science approach, patients and caregivers were deeply involved in the design and evaluation of the app, making it more user-centered. Although the current version requires further optimization in usability and functionality—such as a less intuitive interface and low usage of certain features—its core functions, including health log recording and data export, have been preliminarily validated. Future versions will integrate more automated features, enhance data standardization, and expand multilingual support to serve a broader user base. This study sets a new research paradigm for mobile health tools targeting rare diseases and lays the foundation for future patient-driven digital health research.

 

Jannik Schaaf, Michaela Christina Neff, Jörg Scheidt, and Holger Storf. Co-creation process of an app for people with rare diseases - a citizen science approach. Orphanet Journal of Rare Diseases.