Project Summary

Background: Rare diseases represent a broad spectrum of chronic illnesses, including more than 7,000 diseases and disorders, that can be progressively disabling and may negatively impact life expectancy. Each rare disease affects a relatively small patient population (defined as smaller than 200,000 individuals in the United States). However, more than 30 million Americans are living with rare diseases and disorders. Patient-centered outcomes research/comparative clinical effectiveness research (PCOR/CER) and other real-world evidence can be challenging to assemble based on established research methods because of a variety of factors, such as difficulty in conducting randomized controlled trials due to geographically dispersed small patient populations and lack of natural history of the diseases. These limitations may result in a lack of high-quality evidence about the added clinical added value of orphan drugs, which hinders decision making by patients, providers, payers, and regulatory agencies. The burgeoning ability to diagnose and develop novel therapies for rare diseases also increases the demand for new approaches in PCOR/CER to aid in value assessment for healthcare interventions. With the growing number of therapies being developed, those using value frameworks for decision-making within the US healthcare system require direction on the full range of patient outcomes that should be considered when evaluating these treatment options.

Proposed Solution to the Problem: Using Innovation and Value Initiative Foundation (IVI)’s approach to methods development for value assessment, IVI seeks to convene experts from across the patient and family, research, and healthcare communities to engage in an iterative process and plan for the development of new approaches in PCOR/CER and value assessment that advance understanding of patient-centered outcomes in rare disease.


  • Explore existing gaps in data, challenges for conducting PCOR/CER and treatment evaluations, and resources or guidance to assist stakeholders in evaluating evidence for therapies for rare diseases
  • Explore the full range of outcomes for patients living with rare disease that are important to patients and caregivers and prioritize common outcomes across multiple rare conditions that inform decision making for therapies for rare diseases
  • Develop recommendations for evaluating evidence, including patient and caregiver outcomes, as part of PCOR/CER research
  • Build consensus on approaches and methods for engaging patients and other stakeholders in PCOR/CER and value assessment research to address research challenges in evaluating therapies for rare diseases


  • Convene a steering committee to guide and inform all project activities
  • Brief literature review to document key challenges in PCOR/CER guidance for rare diseases
  • Three roundtable dialogues to gather patient and stakeholder perspectives in evidence needs for decision making
  • Recommendations will be developed and disseminated to inform PCOR/CER and value assessment research priorities.

Projected Outcomes and Outputs:

Short-term outcomes during the project period include: Producing a brief literature review on key challenges and barriers to conducting PCOR/CER for therapies for rare diseases, developing a strategy for engagement of diverse rare disease patient communities, identifying common challenges in PCOR/CER, and developing recommendations on priority outcomes for rare diseases. The primary outputs of the project will include summarized themes from the literature review, materials to support stakeholder convenings, and a report on convening proceedings and consensus recommendations.

Medium-term outcomes (0-2 years post-project period) include: Consensus on priorities for research investment in PCOR/CER in rare disease and buy-in across stakeholders for approaches to research design.

Long-term outcomes (3+ years post-project period) include: The research investments promote greater standardization of inputs collected and used in research design, regulatory processes, value assessment, and payer decision-making related to treatment of rare diseases.

Patient and Stakeholder Engagement Plan: IVI will partner with patients, caregivers, and other stakeholders in planning and executing the proposed project. IVI will partner with The EveryLife Foundation leadership and membership for recommendations on patient leaders in the rare disease community to engage in the project. A multi-stakeholder steering committee will provide input to project planning and implementation. Patients and stakeholders will inform the content of meetings and the recommendations produced. All patient partners will receive compensation to recognize their contributions.

Project Collaborators: IVI is partnering with EveryLife Foundation for Rare Diseases on this project. IVI and EveryLife will serve as co-chairs of the steering committee and work in partnership to convene patients and other stakeholders in a series of roundtable dialogues to inform project outcomes.

Project Information

Rick Chapman, PhD, MS
Innovation and Value Initiative (IVI) Foundation

Key Dates

January 2024


Project Status
State State The state where the project originates, or where the primary institution or organization is located. View Glossary
Last updated: April 3, 2024