Rare Disease Project

Valuing Rare Disease Treatments in Healthcare

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 10,000 diseases and disorders1https://pmc.ncbi.nlm.nih.gov/articles/PMC7771654/. 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. Furthermore, landmark analyses underscore their massive societal impact, with a benchmark study estimating 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 driving this shift must reflect patient diversity and the different values patients hold for their healthcare.

In the realm of rare diseases, access to patient-centered outcomes research (PCOR), comparative effectiveness research (CER), and other real-world evidence pose significant challenges. As advancement 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 examine the key challenges in conducting comprehensive CER and HTA for rare diseases and identify opportunities to better capture the full spectrum of outcomes that matter most to patients and caregivers. Through stakeholder engagement, real-world insights, and collaborative research, the project aims to strengthen the evidence foundation needed to evaluate rare disease treatments in a transparent, equitable, and truly patient-centered way.

The Rare Disease Project is partially funded through generous support from Alexion, AstraZeneca Rare Disease and PCORI®. (See summaries below for specific funding details for each Phase.)

NOW AVAILABLE

The full Rare Disease Patient Engagement Guidance and Checklist is now available.

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NEW

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 Michelle Cheng at michelle.cheng@valueresearch.org.

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.

Phase I of this project was partially supported by Alexion, AstraZeneca Rare Disease, and a Eugene Washington PCORI® Engagement Award (#EASCS-26726).

FULL REPORT
EXECUTIVE SUMMARY

In the second phase, IVI engaged stakeholders to develop a patient-centered framework and checklist for use in rare disease HTA. This work will result in the publication of the Rare Disease Patient Engagement Guidance and Checklist to support its use in guiding rare disease research and strengthening patient engagement.

To accomplish this, IVI:

  • Gathered expert insights by forming a multi-stakeholder advisory group  that met regularly throughout the project to identify gaps and opportunities for patient engagement in rare disease HTA
  • Translated insights into tools by developing the Rare Disease Patient Engagement Guidance and Checklist based on recommendations from the initial phase
  • Explored real-world applications by hosting disease-specific meetings with patients, caregivers, clinicians, and researchers to develop three case studies (Sickle Cell Disease, Leukodystrophy, and generalized Myasthenia Gravis). These case studies demonstrate the checklist’s application across different rare disease contexts.

Phase II was partially supported by Alexion, AstraZeneca Rare Disease, and a Eugene Washington PCORI® Engagement Award (#EASCS-39046). Additional expertise and support were provided by the EveryLife Foundation for Rare Diseases and the National Organization for Rare Disorders (NORD).

IVI is moving from guidance to practice by developing training, co-learning, and implementation resources that will help patients, caregivers, advocates, and researchers work as equal partners in rare disease research.

This phase builds on IVI’s Rare Disease Patient Engagement Guidance and Checklist, and will help researchers, educators, and patient communities put that guidance into practice.

The project will bring together patients, caregivers, advocates, researchers, students, and other stakeholders to identify needs, learn from one another, and develop practical resources for patient-centered rare disease research.

Project Activities

  • Expand the multi-stakeholder Rare Disease Advisory Board to include new members whose expertise align with the goals of this phase
  • Review current patient engagement practices in rare disease research
  • Develop training modules, case examples, and implementation resources
  • Convene two co-learning workshops with researchers, educators, students, patients, caregivers, and other stakeholders
  • Create publicly available tools and educational resources

Expected Resources

  • Practical training and implementation resources
  • Case examples of rare disease patient engagement in practice
  • Co-learning workshops and summaries
  • Public training webpage
  • RDPE Training Toolkit

Together, these resources will strengthen patient-researcher partnerships and support research that better reflects the experiences, priorities, and outcomes that matter to people living with rare diseases and their families.

Phase III was supported by a Eugene Washington PCORI® Engagement Award (#EACB-49240).

EXPLORE RDPE GUIDANCE AND CHECKLIST

ADVISORY BOARD

Becky Barnes

Patient Voices Matter

Mousumi Bose, PhD

Montclair State University

Shailesh Chavan, MD

HepQuant

Kathryn Cowie

Nested Knowledge

Jose Delgado, MD

ICHOM

Vanessa Ferreira, PhD, MBA

Humanized Solutions

Karin Hoelzer, PhD, DVM

National Organization for Rare Disorders

Swapna Kakani, MPH

The Gutsy Perspective

Annie Kennedy

EveryLife Foundation for Rare Diseases

Joff Masukawa

Diligentia Strategy

Kavita Nair, PhD, FAAN

University of Colorado

Eleanor Perfetto, PhD, MS

University of Maryland

Charlene Son Rigby, MBA

Global Genes

Paris Scott, JD

American Red Cross

Dionne Stalling

Rare And Back

Simu Thomas, PhD

Alexion, AstraZeneca Rare Diseases

Marc Yale

International Pemphigus and Phemphigoid Foundation

Christina Zaleski, MS, LCGC

Exact Sciences

Dorota Zgodka, PhD, DSc

Experienta

Publications & Resources

Resource

Rare Disease Patient Engagement Guidance and Checklist (Executive Summary)

A brief overview of why this resource was developed, how it was created with multi-stakeholder input, and how it can

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Resource

Rare Disease Patient Engagement Guidance and Checklist (Structured Checklist)

A standalone RDPE checklist table with key questions and response options organized by phase. Designed for use in team meetings,

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Resource

Rare Disease Patient Engagement Guidance and Checklist (Guidance Text)

A detailed guide and checklist for planning, carrying out, and documenting patient and caregiver engagement. Includes relevant examples, key definitions,

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Poster

2025 ISPOR Poster “Developing a Checklist for Patient Engagement in Rare Disease Value Research”

This ISPOR poster describes the development of the Checklist for Patient Engagement in Rare Disease Value Research, created by IVI

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Poster

2025 World Orphan Drug Congress Poster “Developing a Checklist for Patient Engagement in Rare Disease Value Research”

This poster presents the development of the Checklist for Patient Engagement in Rare Disease Value Research, created by IVI to

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Poster

2025 NORD Breakthrough Summit Poster “Co-Creating Guidance and a Checklist for Rare Disease Value Research through Meaningful Patient and Caregiver Engagement”

This poster describes the creation of the Patient-Centered Value Research Guidance and Checklist for Rare Diseases, developed to help researchers

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Poster

2024 ISPOR Poster “Advancing Patient-Centered Outcomes Research for Rare Diseases: A Mixed-Methods Approach”

This ISPOR poster presents a mixed-methods literature review examining how patient-centered outcomes are addressed in health technology assessment and economic

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Poster

2024 ISPOR Poster “Engaging Patients with Rare Disease in Identifying Meaningful Approaches to integrate Patient-Centered Outcomes inComparative Effectiveness Research and Value Assessment”

This poster summarizes a mutli-stakeholder IVI-EveryLife Foundation project focused on engaging people with rare diseases to identify meaningful, patient-centered outcomes

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Video

Bridging the Gap, Empowering Patients: A Collaborative Approach to Rare Disease Research

This video highlights the significance of adopting a collaborative, patient-centered approach in rare disease research.

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Report

Valuing Rare Disease Treatments in Healthcare: Real Experience, Real Impact

This report, developed by the Innovation and Value Initiative and the EveryLife Foundation for Rare Diseases, outlines how comparative effectiveness

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Other resources & publications