European stakeholder perspectives on challenges to rare disease drug development – a qualitative study

ABSTRACT Background The multifaceted challenges of rare disease research remain, leaving a large proportion of rare disease patients without treatment options. This study aims to identify the challenges of rare disease drug development. Research design & methods Ten semi-structured interviews were carried out with a range of stakeholders. Thematic analysis was conducted to identify common and important themes. Results Four overarching themes of stakeholder engagement, regulatory structure, data, and patient support were identified, encompassing fifteen subthemes. Conclusion The presence of an active patient group is a significant factor in reducing barriers to rare diseases treatment development. Effective collaboration between the various stakeholders of rare disease research is crucial.