SelEe - Verbundprojekt: Seltene Erkrankungen bürgerwissenschaftlich erforschen! - SelEe -; Teilvorhaben: Hochschule für Angewandte Wissenschaften Hof

Background

Rare diseases affect a small percentage of the population, leading to challenges such as delayed diagnoses and limited treatment options. Mobile health technologies offer solutions to improve patient outcomes, yet their application in rare diseases remains underexplored. The German citizen science project SelEe created a customizable app for the self-management of rare diseases through a co-creation process that involved patients with such conditions.

Methods

The project consisted of three phases. In Phase 1, 9 to 68 patients or relatives of patients participated in workshops to define research topics and app requirements. Phase 2 involved a core research team of nine patients and researchers who iteratively developed the app, released in March 2023. Phase 3 focused on evaluating the app’s usage and usability through an in-app survey conducted from March 2023 to February 2024. We utilized descriptive statistics to evaluate app usage and employed the mHealth App Usability Questionnaire to assess usability.

Results

The SelEe app offers the possibility to create and store data in a personalized health diary. Patients can create their own templates or use templates which were defined by the core research team. Users can record findings (e.g. blood test results) and export data using different graphs and formats. Furthermore, the app supports blind users. The app was downloaded 3040 times and 1456 users registered, with 1967 unique diseases entered. 50.7% of the diseases were rare, 30.5% non-rare, and 18.8% were classified as suspected, undefined, or symptoms. A total of 1223 valid user profiles were analyzed for app usage and demographics. Furthermore, 432 users qualified for the in-app survey by making at least one health diary entry, and 117 participated. The app was rated with an overall usability score of 5.19 out of 7. While the app’s health diary function was frequently used, other functionalities like findings and data export were less utilized. Feedback highlighted the need for improved usability and additional features.

Conclusions

The study highlights active patient engagement in developing a mobile health app for individuals with rare diseases. Although improvements are necessary for broader acceptance, the app is promising for the management of rare diseases.

Citizen science allows involving interested citizen in the entire research process in science. In the past, various citizen science projects have been performed in different research fields, especially in human medicine. We conducted a rapid scoping review to determine which citizen projects in human medicine already used software-based systems to engage citizens in the research process. Furthermore, we analysed which of the software-systems are publicly available, especially in the field of rare diseases, how citizens can participate using those tools and whether the usability was rated by the participants. To get insights for our project “SelEe (Seltene Erkrankungen bürgerwissenschaftlich erforschen)”, which is a citizen science project in rare diseases funded by the Federal Ministry of Education and Research (BMBF), we aimed to identify projects in this research area. We searched PubMed for articles between 2011 and 2021 and performed a title- and abstract screening, as well as a full-text screening. Finally, 12 studies were identified in different research areas like public health, genetic research and infectious diseases. We could not identify any study directly associated with rare diseases. None of the studies investigated usability of those systems. Furthermore, five publicly available citizen science software-systems were identified. Three of them are general systems that allow creating, operating, managing citizen science projects and including citizens in the research process. In further investigations, we will check and compare these systems, if they are appropriate for use in our SelEe-project.

The citizen science project SelEe (‘Researching rare diseases in a citizen science approach‘) aims to research rare diseases in collaboration with citizens by using digital applications. SelEe adopts a participatory approach as it is important to recognise the active role of patients and their families as informed partners. They are often the experts on their own disease. Similarly, involving citizens beyond those affected can increase the visibility and understanding of rare diseases. Citizens can contribute their strengths, engage socially and learn new knowledge about digital apps, the diseases and their research. Engaging citizens in a continuous exchange of information as well as developing digital applications for research can make research more accessible to citizens while strengthening research and its relevance.