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.
In the initial phase, the Center for Innovation & Value Research and the EveryLife Foundation for Rare Diseases collaborated to gather experts using the Center’s “learning laboratory” approach. This effort resulted in a report with prioritized recommendations for identifying patient-centered outcomes in rare diseases.
In the new phase, the Center will engage stakeholders to develop a patient engagement rubric and checklist for use in rare disease HTA. To accomplish this, the Center will:
- Gather expert insights
- Translate insights into tools
- Explore real-world applications
Learn more
The Center for Innovation & Value Research is seeking collaborators for this project. If you or someone you know is interested in learning more, or for more information about this initiative, please contact Rick Chapman, PhD at rick.chapman@thevalueinitiative.org.
This project is supported by contributions from Alexion, AstraZeneca Rare Disease.