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, IVI and the EveryLife Foundation for Rare Diseases collaborated to gather experts using IVI’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, IVI will engage stakeholders to develop a patient engagement rubric and checklist for use in rare disease HTA. To accomplish this, IVI will:
- Gather expert insights
- Translate insights into tools
- Explore real-world applications
SEEKING COLLABORATORS
IVI 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.
Phase I Report
CALL FOR EXPERTISE: PROJECT ADVISORY BOARD
Application Dates: June 5 – 21, 2024
IVI is seeking individuals with an understanding of experiences of rare disease patients, dedication to advancing patient-centered outcomes research (PCOR), and interest in improving assessments of rare disease treatments to contribute to Phase 2 of the Rare Disease Initiative.
- Lived Experience: Patients, family members or caregivers with firsthand healthcare experience.
- Patient Advocacy: Professionals representing and advocating for rare disease patients.
- Health Technology Assessment and Health Economics: Professionals with expertise in health technology assessment, economic evaluation, and health policy.
- Clinical Expertise: Clinicians specializing in specific rare diseases.
- PCOR/Comparative Effectiveness Research Methodologists: Researchers specializing in patient-centered outcomes and comparative effectiveness research.
- Regulatory and Policy: Experts in healthcare regulation, policy development, and implementation.
- Guidance on Methodology: Advise the development and refinement of a patient engagement rubric and checklist.
- Review and Validation: Ensure project outputs are scientifically rigorous and relevant.
- Dissemination and Implementation: Advocate for adopting the rubric and checklist in HTA processes.
- Participation in 3-4 virtual advisory board meetings over the course of one year.
- Ongoing review and feedback on project deliverables.
- Engagement in dissemination activities as needed.
This initiative represents a significant step forward in ensuring that the perspectives and needs of rare disease patients are integral to the healthcare decision-making process.