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Lookup NU author(s): Professor Kevin WilsonORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
Background: Developing rare disease therapies is challenging due tolimited evidence and high degrees of uncertainty regarding the value ofnew treatments. Clinical expert judgment can inform modellingassumptions and address areas of uncertainty in reimbursementsubmissions. As current protocols do not adequately address thechallenges faced in rare diseases, this research aimed to generaterecommendations for the collection and reporting of clinical expertjudgment in rare diseases.Methods: An international group of industry, payer and patient expertswith a background in rare diseases participated in a roundtable meeting,which aimed to identify practical challenges and solutions for gatheringclinical insights to aid reimbursement decisions for rare disease therapies.Recommendations were co-created through iterative discussions andconsensus.Results: Developers should proactively identify uncertainties that expertjudgment can address, in parallel with early evidence generationplanning. Expert judgment method(s) depend on the uncertainties, withthose key to decision-making requiring more robust and time-intensivemethods. For highly complex and uncertain topics, methods shouldfacilitate consensus-building and expression of diverse views. Given thescarcity of rare disease experts, a high time burden falls on few experts.Developers should engage diverse stakeholder groups to integratebroader clinical perspectives and reduce reliance on specific individuals,whilst approaching conflicts of interest pragmatically and transparently.Conclusion: These recommendations create a blueprint for developers ofrare disease therapies to conduct high-quality clinical expert judgmentstudies. In doing so, developers can present more robust evidence toinform key areas of uncertainty in reimbursement decisions, whereempiric evidence is unavailable.
Author(s): Griffiths A, Dunning L, Facey K, Jankovic D, Gonzalez MC, Low E, Meregaglia M, Schmidt F, Wilson K, Upadhyaya S, Chapman N, Zentai C, Wright S, Newell I
Publication type: Article
Publication status: Published
Journal: International Journal of Technology Assessment in Health Care
Year: 2025
Volume: 41
Issue: 1
Online publication date: 07/10/2025
Acceptance date: 19/08/2025
Date deposited: 20/10/2025
ISSN (print): 0266-4623
ISSN (electronic): 1471-6348
Publisher: Cambridge University Press
URL: https://doi.org/10.1017/S0266462325100457
DOI: 10.1017/S0266462325100457
Data Access Statement: The supplementary material for this article can be found at http://doi.org/10.1017/S0266462325100457
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