Rare disease represents a broad spectrum of chronic illnesses 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 disorders. 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) value assessment for health care interventions.

Using IVI’s open-source “working lab” approach to HTA model development, IVI 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 [email protected].

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