Session (CTI)

ISSUE: Development and commercialisation of therapies for rare diseases is difficult for a variety of reasons, including lack of established endpoint hierarchy or inadequate understanding of the distribution of symptoms and their impacts in the population. Recent guidelines from the European Medicines Agency/International Committee for Harmonisation, and from the US Food and Drug Administration, position patient preferences as key evidence for regulatory decision-making. Several HTA agencies and payers welcome patient preference data, especially in rare disease contexts where generic quality-of-life instruments are often inadequate. Patient preference elicitation in rare diseases, however, is challenging due to limited sample sizes and heterogeneous disease manifestations. How can we effectively elicit decision-grade patient preference data for regulatory and payer uses? OVERVIEW: The panel will discuss how patient preferences are incorporated into the regulation and reimbursement of rare disease therapies, and the challenges sponsors face when omitting patient preference data, such as justifying endpoint selection, inadequately powered benefit-risk assessments, and patient value of the therapy. Dr Tervonen will open the panel by discussing key challenges and opportunities with patient preference studies in rare disease research. Dr Ho will then present the sponsor's perspective and discuss what good and inadequate patient-preference studies in rare diseases look like. Mr Low will discuss how patient preferences have shaped reimbursement decisions in the UK, and how patient preference data can be complemented with other real-world data for access discussions. Dr Pignatti will discuss current guidance and regulatory expectations for patient preference data, including possibilities to inform orphan drug designation. The panel will close with a discussion between the panellists and the audience about their experience in the rare disease context. HEOR scientists, regulatory and clinical outcome assessment scientists benefit from attending this intermediate panel.