ISPOR’s Value in Health Highlights New Paradigms in Rare Disease Economics

Lawrenceville, NJ, USA—December 18, 2024—Value in Health, the official journal of ISPOR—The Professional Society for Health Economics and Outcomes Research, announced today the publication of a special themed section of research papers that document challenges in rare disease evidence and economic evaluation and policy as well as ways in which the environment is evolving to address them. Guest editors for the themed section are Brian Rittenhouse, PhD, Massachusetts College of Pharmacy and Health Sciences, Boston, MA, USA, and Elena Nicod, PhD, Dolon, Ltd, Milan, Italy. The series was published in the December 2024 issue of Value in Health.

In their opening editorial, Rittenhouse and Nicod note that specific policies, legislation, and process adaptions for orphan drugs have focused on improving the attractiveness of rare disease innovation via different types of regulatory incentives. These policies also adapt pricing and reimbursement frameworks and processes to help manage the challenges of limited evidence available at time of launch and the high cost of these medicines. The Guest Editors point out, however, that few initiatives have focused on new approaches to generating and evaluating clinical or cost-effectiveness evidence. “The motivation for this themed section was that we wanted to revisit the question of whether rarity should be treated differently, focusing on what has changed, what may have been incorrect or more debatable in the past, and what may have not been addressed in previous work,” they said.

The themed section includes 5 research papers:

1. “Towards Patient-Centered Drug Approval for Treatment of Rare Diseases,” by Charles Manski, PhD
2. "Discriminatory Properties of QALY-Based Cost-Effectiveness Analysis for Patients With Disabilities: A Duchenne Muscular Dystrophy Case Study,” by Alexa Klimchak, MA; Lauren Sedita, MS; Eleanor Perfetto, PhD; Katherine Gooch, PhD; and Daniel Malone, PhD
3. “Three Pillars of Support for Orphan Drug Programs: Individual Valuations, Societal Valuations, and Anonymous Altruism,” by Darius Lakdawalla, PhD; Charles Phelps, PhD; and Hong-Hanh Nguyen, MA
4. "The Health Benefits, Costs, and Cost-Effectiveness of Ultra-Orphan Drugs," by Katherine Clifford, MPH; A. Alex Levine, MPH; Daniel Enright MS; Peter J. Neumann ScD; and James Chambers PhD, MPharm, MSc
5. "Evidence Quality and Health Technology Assessment Outcomes in Reappraisals of Drugs for Rare Diseases in Germany," by Lea Wiedmann, MSc; John Cairns, MPhil; and Ellen Nolte, PhD

The evidence from these papers suggests that while ultra-orphan drugs may offer substantially larger health gains than non-orphan drugs, they face significant challenges in demonstrating cost-effectiveness due to their high costs. Traditional health economic evaluation methods using quality-adjusted life-years (QALYs) may disadvantage treatments for rare severe diseases and disabilities. Alternative approaches, such as the Generalized Risk-Adjusted Cost-Effectiveness (GRACE) framework, modified statistical methods, and consideration of societal preferences for horizontal equity, may be needed to appropriately evaluate these treatments—an important consideration as orphan drugs represent a growing share of new drug approvals and healthcare spending.

“Some of the suggested methods in these papers may solve challenges in rare disease evidence and economic evaluation and policy and reduce the need for further initiatives as they may supply solutions to long-perceived difficulties in rare disease economic evaluation and policy,” concluded Rittenhouse and Nicod. “However, challenges will remain due to the inherent difficulties in providing rare disease evidence and because current proposed solutions challenge traditional approaches."

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Suggested Reading

• Partial Orphan Cancer Drugs: US Food and Drug Administration Approval, Clinical Benefit, Trials, Epidemiology, Price, Beneficiaries, and Spending
• Do Reimbursement Recommendations by the Canadian Agency for Drugs and Technology in Health Translate Into Coverage Decisions for Orphan Drugs in the Canadian Province of Ontario?
• Approaches to the Assessment of Clinical Benefit of Treatments for Conditions That Have Heterogeneous Symptoms and Impacts: Potential Applications in Rare Disease
• Evaluating the Health-Related Quality of Life of the Rare Disease Population in Hong Kong Using EQ-5D 3-Level
• Health Technology Assessment With Diminishing Returns to Health: The Generalized Risk-Adjusted Cost-Effectiveness (GRACE) Approach

ABOUT ISPOR
ISPOR—The Professional Society for Health Economics and Outcomes Research (HEOR), is an international, multistakeholder, nonprofit dedicated to advancing HEOR excellence to improve decision making for health globally. The Society is the leading source for scientific conferences, peer-reviewed and MEDLINE^®-indexed publications, good practices guidance, education, collaboration, and tools/resources in the field.
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ABOUT VALUE IN HEALTH
Value in Health (ISSN 1098-3015) is an international, indexed journal that publishes original research and health policy articles that advance the field of health economics and outcomes research to help healthcare leaders make evidence-based decisions. The journal’s current impact factor score is 4.9 and its 5-year impact factor score is 5.6. Value in Health is ranked 5th of 118 journals in Health Policy and Services, 15th of 174 journals in Health Care Sciences and Services, and 56th of 597 journals in Economics. Value in Health is a monthly publication that circulates to more than 55,000 readers around the world.
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