PAFORSE: Patient-driven research for Rare Diseases

The PAFORSE project aimed to strengthen patient engagement in the planning and implementation of potential follow-up projects to the ongoing “Collaboration on Rare Diseases” (CORD-MI) project of the Medical Informatics Initiative (MII). The aim of CORD-MI is to improve care and research in the area of rare diseases.

PAFORSE was led by Dr. Josef Schepers (BIH@Charité, Core Unit E-Health & Interoperability) in close collaboration with ACHSE e.V. (Alliance of Chronic Rare Diseases) and it was funded by a QUEST Grant for Patient & Stakeholder Engagement. ACHSE e.V. is a patient umbrella organisation with more than 130 member organisations of and for persons with rare diseases and their relatives in Germany. The aim of PAFORSE was to improve communication between patients and researchers in the field of digitalisation. The following questions were in the focus of the project:

• What experiences do patient organisations have with digitalisation in the context of their work and in collecting disease-specific data?
• What barriers and obstacles do they perceive in the development and implementation of digital technologies?
• In which fields do they see specific needs for support regarding digitalisation?

To answer these questions, three consecutive workshops with researchers and representatives of ACHSE member organisations took place during the project duration from July to December 2021 (Fig. 1). In addition, a survey and in-depth interviews with ACHSE members were conducted.

The most important results were:

• Patient organisations have a strong interest in being more involved in the planning and implementation of research projects. They are particularly interested in projects on symptom treatment and the management of impairments or the effectiveness of therapeutic measures. But they could also imagine participating in research on causal treatments.
• The involved organisations have very different levels of experience in using digital applications. Depending on the underlying condition, the requirements for digital applications also vary.
• There is a strong need for digital applications that are suitable for everyday use and medical registers that can serve both evidence generation and networking. However, there are also perceived barriers, especially related to data protection and data security, as well as to the required support for setting up and sustainable usage. The individual benefits are also seen in a critical light.
• Patient-reported outcomes should play an important role in future registers.

The results of PAFORSE have already been presented within the Medical Informatics Initiative. A publicly available final report is in preparation and will also be disseminated within ACHSE and CORD-MI.

The involved partners want to continue their collaborative work: Together with other partners, they are currently preparing a follow-up application for the expansion and extension phase of the MII. By using the results from PAFORSE, the criterion of patient involvement and participation required in the call for proposals is already fulfilled in the planning phase.