Rare Disease Initiative

Partnering with Rare Disease Patients to Identify Meaningful Approaches to Health Technology Assessment

Rare disease includes 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 each 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. One study estimated the total economic burden of 379 rare diseases in the U.S. to be $997 billion in 2019.

As the U.S. moves toward a value-based healthcare system, the data inputs and evidence base used to drive this shift must reflect the diversity of patients and represent the different values that patients hold for thier healthcare.

Meeting the Challenge

In the realm of rare conditions, access patient-centered outcomes research (PCOR), comparative effectiveness research (CER), and other real-world evidence poses significant challenges. As advancements in identifying, diagnosing, and treating rare diseases accelerate, the demand for innovative approaches in CER and tools for health technology assessment (HTA) also rises.

The Rare Disease project aims to address these challenges by examining the hurdles in conducting comprehensive comparative effectiveness research that incorporates the full spectrum of outcomes crucial to patients with rare diseases. Through IVI’s open-source “learning laboratory” approach to HTA, IVI and the EveryLife Foundation for Rare Diseases collaborated to bring together experts from patient, family, research, and healthcare communities. This collaborative effort developed new methodologies in PCOR/CER and HTA, fostering a deeper understanding of patient-centered outcomes in rare diseases.

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