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. 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.

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 way that is transparent, equitable, and truly centered on patients.

The Rare Disease Project is partially funded through generous support from Alexion, AstraZeneca Rare Disease and the Eugene Washington PCORI® Engagement Award (#EASCS-26726 and #EASCS-39046). 

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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.

Phase I of this project was partially supported by a Eugene Washington PCORI® Engagement Award (#EASCS-26726).

FULL REPORT
EXECUTIVE SUMMARY
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In the second phase, the Center 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, the Center:

  • 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 of this project was partially funded by 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).

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In the third phase, the Center aims to strengthen the Rare Disease Patient Engagement Guidance and Checklist‘s real-world utility, explore its applications to research in greater depth, and recognize excellence in patient-centered research. The goal of these efforts is to ensure that patients and caregivers are authentically involved in rare disease research so that CER and HTA include outcomes that are important to patients and coverage and payment decisions are not delayed.

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@valueresearch.org.

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

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 the

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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 the Center

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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