Recommended methods for the collection of clinical expert judgment in rare diseases: Generating evidence to support reimbursement of orphan drugs.

backgroundDeveloping therapies for rare diseases is challenging due to limited evidence and high degrees of uncertainty regarding the value of new treatments. Clinical expert judgment can inform modeling assumptions and address areas of uncertainty in reimbursement submissions. As current protocols do not adequately address the challenges faced in rare diseases, this research aimed to generate recommendations for the collection and reporting of clinical expert judgment in rare diseases.

methodsAn international group of industry, payer, and patient experts with a background in rare diseases participated in a roundtable meeting, which aimed to identify practical challenges in and solutions for gathering clinical insights to aid reimbursement decisions for rare disease therapies. Recommendations were cocreated through iterative discussions and group agreement.

resultsDevelopers should proactively identify uncertainties that expert judgment can address, in parallel with early evidence generation planning. Expert judgment method(s) depend on the uncertainties, with those key to decision-making requiring more robust and time-intensive methods. For highly complex and uncertain topics, methods should facilitate consensus building and expression of diverse views. Given the scarcity of rare disease experts, a high time burden falls on a few experts. Developers should engage diverse stakeholder groups to integrate broader clinical perspectives and reduce reliance on specific individuals while approaching conflicts of interest pragmatically and transparently.

conclusionsThese recommendations create a blueprint for developers of rare disease therapies to conduct high-quality clinical expert judgment studies. Hence, developers can present more robust evidence to inform key areas of uncertainty in reimbursement decisions, where empirical evidence is unavailable.