Innovative Collaboration Aims to Improve Care for Millions Affected by Rare Diseases


The Innovation and Value Initiative (IVI), a non-profit research organization committed to advancing the science, practice, and use of health technology assessment (HTA) in healthcare, in partnership with the Everylife Foundation for Rare Diseases, released a report “Valuing Rare Disease Treatments In Healthcare: Real Experience, Real Impact,” as part of IVI’s Rare Disease Initiative. This effort was made possible through funding support from the Eugene Washington PCORI® Engagement Awards program, an initiative of the Patient-Centered Outcomes Research Institute® (PCORI®), and Alexion, AstraZeneca Rare Disease.

“This collaboration marks a crucial step forward in improving the lives of millions of people living with rare diseases,” said IVI Chief Science Officer, Rick Chapman, PhD. “By involving people with rare disease at the forefront of research, we can develop more effective treatments that address outcomes that are important to patients, optimize healthcare decisions, and ultimately improve access to innovative therapies for those who need it most.”

“The EveryLife Foundation has been proud to collaborate with IVI to convene an iterative process to identify patient-centered outcomes research (PCOR) and comparative effectiveness research (CER) centered on values that matter most to rare disease patients and caregivers,” said Annie Kennedy, the EveryLife Foundation for Rare Diseases Chief of Policy, Advocacy, and Patient Engagement. “Through a series of roundtable meetings and the development of a consensus report, we convened experts from varying ecosystems that don’t typically have the opportunity to engage together and yielded critical insights that serve to inform the assessment of patient-centered outcomes for rare diseases and future approaches in PCOR/CER and HTA.”

This project explored common patient-centered outcomes across rare diseases, identified evidence gaps, and built consensus on addressing unique research challenges. Comprised of a diverse steering committee, the team conducted numerous roundtable discussions, literature reviews, and consultations with patients and caregivers. From these engagements, seven key domains were identified on what matters most to patients, caregivers, and other stakeholders in developing approaches to comparative effectiveness research and value assessment for rare diseases:

  • Patient Journey and Time. The patient journey and time, which include the disease’s natural history and its evolving impact on patients, is important to consider when identifying and prioritizing outcomes important to rare disease patients.
  • Caregiver Journey. Throughout a patient’s health journey, caregivers provide vital support, assistance, and advocacy for their loved ones. It is essential to understand health and other impacts on caregivers.
  • Early and Continuing Engagement and Communication. Initiating and continuing patient/caregiver engagement with other stakeholders is critically essential to conducting fully patient-centered research and helpful for decision-making.
  • Data and Methods. Comprehensive, representative data plays an important role in value assessment and patient-centered outcomes research, especially when dealing with rare diseases. Collaboration should be encouraged to enhance data collection; and mixed (quantitative and qualitative) methods should also be promoted to incorporate lived experiences as meaningful input.
  • Economic Impacts. Understanding economic impacts on patients and caregivers can help payers and other decision-makers to better design plans and strategies to ultimately improve patients’ experiences and outcomes.
  • Scientific Spillover Innovative treatments developed for one rare disease may be re-purposed or modified to treat additional rare diseases. Given the limited resources and data available for the study of rare disease treatments, the value of it could be especially beneficial.
  • Identifying Common Patient-Centered Outcomes for Economic Modeling. Identifying common patient-centered outcomes across rare diseases can help accelerate cross-cutting research, enhance our understanding of diseases themselves and of patient perspectives, and potentially improve comparative effectiveness research methods.

This project included a diverse steering committee of experts, including patients, caregivers, clinicians, payers, industry leaders, and other stakeholders. The findings will inform the development of more effective research approaches to patient engagement and development of recommendations for patient-centered outcomes in rare disease research studies, leading to more informed selection of outcomes that are important for patients and their families.