Presentation (CTI)

OBJECTIVES: Generating robust evidence to inform healthcare value and access decisions in rare diseases presents unique challenges due to small, heterogeneous populations, limited data, and evolving treatment landscapes. Conventional primary research techniques are often infeasible or inappropriate in these settings. We aimed to develop and operationalise alternative evidence generation approaches tailored for rare diseases, designed to optimise stakeholder engagement and patient-centred decision-making in HEOR and healthcare decision-making (HCDM).
METHODS: A focused evidence search was conducted to identify methodological challenges and evidence gaps encountered in rare disease HEOR and HCDM. We explored the challenges related to the nuances of generating evidence to demonstrate value in rare disease.
RESULTS: Insights from the focused evidence search informed the development of a modular evidence generation framework, designed to provide scalable alternatives to conventional research techniques in rare diseases. The framework incorporates preference elicitation (swing weighting, best-worst scaling, qualitative interviews), scenario modelling, expert consensus techniques (Delphi panels, advisory boards), vignette studies, and pathway mapping. The framework highlights the feasibility of qualitative and expert elicitation approaches where quantitative methods are unviable. Preference elicitation techniques identify key treatment attributes and trade-offs, while multi-criteria decision analysis (MCDA)-informed interviews enable stakeholders to systematically prioritise outcomes. Scenario modelling and vignette-based approaches address uncertainty, and expert panels validate assumptions and contextualise findings. Pathway mapping identifies value drivers overlooked in standard approaches, supporting credible, relevant narratives for HTA and reimbursement submissions.
CONCLUSIONS: Our tailored, modular evidence generation framework offers a practical, scalable solution to address the complex decision-making challenges in rare diseases. By recognising that a one-size-fits-all approach is unsuitable for evidence generation in these contexts, the framework incorporates techniques such as MCDA-informed qualitative interviews and expert elicitation. This enhances the integration of patient and stakeholder perspectives to generate actionable insights supporting payer engagement, value proposition development, and HTA submissions where conventional methods are insufficient.