Rare disease represents a broad spectrum of chronic illness that can be progressively disabling and may negatively impact life expectancy. The label “rare disease” includes more than 7,000 diseases and disorders. While rare disease affects a relatively small patient population (defined as smaller than 200,000 individuals in the U.S.), more than 30 million Americans are living with rare diseases and disorder. In 2019, total economic burden in the U.S. of 379 rare diseases included in one study was estimated to be $997 billion.

Patient-centered outcomes research (PCOR), comparative effectiveness research (CER), and other real-world evidence can be difficult to identify for a variety of reasons. The burgeoning ability to identify, diagnose and develop novel therapies for rare diseases also increase the demand for new approaches in CER and tools to aid in health technology assessment (HTA) for healthcare interventions.

Using IVI’s open-source “working laboratory” approach to HTA model development, IVI, in partnership with the EveryLife Foundation for Rare Diseases, seeks to convene experts from across the patient and family, research, and healthcare communities to engage in an iterative process and planning for the development of new approaches in PCOR/CER and HTA that advance our understanding of patient-centered outcomes in rare disease.

This effort is partially supported by a Eugene Washington PCORI Engagement Award (#EASCS-26726). This project is also supported by contributions from Alexion Pharmaceuticals.

For more information about this initiative, please contact IVI’s Chief Science Officer, Rick Chapman, PhD at rick.chapman@thevalueinitiative.org.

The primary objective of this initiative is to explore existing challenges for conducting comparative effectiveness research and the full range of outcomes that are important to patients living with rare disease.

This initiative follows a three-step approach:

1. Convene a steering committee to assist and advise IVI on project implementation
2. Conduct a targeted literature review to understand current comparative effectiveness research in rare diseases and explore common patient-centered outcomes.
3. Host roundtable meetings with diverse stakeholders, including patient representatives, payers, and other stakeholder groups.

• Webinar: Valuing Rare Disease Treatments in Healthcare: Real Experience, Real Impact. Innovation and Value Initiative and the EveryLife Foundation for Rare Diseases. November 29, 2023.
• PCORI Award Press Release
• Engaging Patients with Rare Disease in Identifying Meaningful Approaches to Comparative Effectiveness Research and Value Assessment. Innovation and Value Initiative and AcademyHealth.
• Yang, G., Cintina, I., Pariser, A. et al. The national economic burden of rare disease in the United States in 2019. Orphanet Journal of Rare Diseases 17, 163 (2022). https://doi.org/10.1186/s13023-022-02299-5
• Perfetto, E.M. et al. A Foundation for Patient-Centered Core Impact Sets: Key Learnings from Past and Existing Approaches. Patient (2023). https://doi.org/10.1007/S40271-023-00630-1
• Perfetto, E.M., Oehrlein, E.M., Love, T.R. et al. Patient-Centered Core Impact Sets: What They are and Why We Need Them. Patient 15, 619–627 (2022). https://doi.org/10.1007/s40271-022-00583-x
• dosReis, S., Bozzi, L.M., Butler, B. et al. Preferences for Treatments for Major Depressive Disorder: Formative Qualitative Research Using the Patient Experience. Patient 16, 57–66 (2023). https://doi.org/10.1007/s40271-022-00596-6
• dosReis, S., Butler, B., Caicedo, J. et al. Stakeholder-Engaged Derivation of Patient-Informed Value Elements. Patient 13, 611–621 (2020). https://doi.org/10.1007/s40271-020-00433-8
• Linthicum, M.T., dosReis, S., Slejko, J.F. et al. The Importance of Collaboration in Pursuit of Patient-Centered Value Assessment. Patient 14, 381–384 (2021). https://doi.org/10.1007/s40271-020-00446-3
• Malik E, Bright J, Ridley E, Cope E, Edmunds M (2023). A Research Framework to Understand the Full Range of Economic Impacts on Patients and Caregivers. Alexandria, VA. Innovation and Value Initiative and AcademyHealth.