Interface management concepts in healthcare for rare diseases in Germany: a study protocol for a mixed-methods study...

Patients and families affected by a rare disease are burdened in multiple ways. Functional interface management can unburden patients or relatives from the need to be solely accountable for the navigation through the healthcare system. This study aims at (1) providing an assessment of approaches and interface management concepts in the care of rare diseases, (2) evaluating selected existing approaches and concepts and (3) developing best practice recommendations for interface management.

We will conduct a mixed-methods study with three phases. In phase 1, we will develop a tool to assess existing concepts of interface management for rare diseases based on a literature search and an expert workshop. The tool will be applied in a telephone survey with representatives of centres or clinics of expertise for rare diseases (target: n=100) and cooperating practitioners (target: n=60). Based on the results of phase 1, we will select four to six centres of expertise with interface management concepts, which will be evaluated extensively in phase 2. For the evaluation, we will conduct semistructured interviews with practitioners cooperating with centres or clinics for rare diseases (target: n=50), a paper-based survey including patients or parents/legal guardians (target: n=300) from the selected centres or clinics, and semistructured interviews with patients or parents/legal guardians (target: n=50). The final phase of the study will be an integration of results from phases 1 and 2 to develop best practice recommendations for interface management in healthcare of rare diseases. In a concluding expert workshop, recommendations will be presented and finalised.

This study was approved by the Local Psychological Ethics Committee of the Center for Psychosocial Medicine of the University Medical Center Hamburg-Eppendorf (LPEK-0062). The findings of our study will be presented on national and international conferences and published in scientific, peer-reviewed journals. To assure that centres for rare diseases get access to the study results, centres are invited to send a representative to a final expert workshop in phase 3. Moreover, an executive summary will be provided and sent to relevant stakeholders.

German Clinical Trials Registry (DRKS00020488).