Analysis Group Authors Examine the Advancements in and Application of HEOR to the Evaluation of Cell and Gene Therapies for Rare Diseases
July 22, 2025
Scientific advancements have enabled the development of cell and gene therapies (CGTs) that can effectively treat – and sometimes cure – debilitating and often life-threatening rare diseases. For patients with rare hereditary genetic disorders, timely access to CGTs can yield real differences in meaningful gains in life years. However, because of small patient populations, heterogeneous disease presentations, a lack of effective alternative treatments, and hence, ethical concerns, gold standard randomized double-blind controlled clinical trials are often not suitable for establishing efficacy and safety for CGT treatments. Consequently, traditional economic models are not able to capture the holistic value of CGTs, given that the true benefits associated with such treatments are subject to a much longer time outside of the trial periods. To address these challenges, researchers are increasingly relying on innovations in health economics and outcomes research (HEOR) to inform proper clinical and economic evaluation of CGTs.
In an article published in Value in Health, Analysis Group Managing Principal Min Yang, Manager Su Zhang, and affiliate Lou Garrison collaborated with colleagues at Novartis to examine how HEOR is transforming the evaluation and access pathways for CGTs for rare diseases. As CGTs move from experimental to increasingly approved treatments for rare diseases, health systems face urgent questions about how to evaluate, reimburse, and scale their access equitably. In their article, the authors summarize five key areas where HEOR has contributed to the design and collection of long-term real-world data (RWD) for CGT efficacy extrapolation, justification for use of novel endpoints, integration of patient voices and preferences, and application of sophisticated statistical methodology, sometimes augmented with artificial intelligence (AI) or natural language processors. These advances are reflected in regulators’ and health technology assessment (HTA) agencies’ growing openness to the acceptance of real-world evidence (RWE) and patient-centered endpoints in their evaluations, marking a shift from traditional standards that may not suit CGTs. The authors note that the use of HEOR has provided tools to enable a more holistic assessment for therapies like CGTs, inform pricing and reimbursement strategies, enhance the efficient delivery of CGTs to patients, improve health outcomes and affordability of treatments, and reduce treatment uncertainties for patients with rare diseases. They emphasize the continued need for collaboration among researchers, payers, and regulators to refine HEOR approaches that support both innovation and sustainability in rare disease care.
The article, “Evolving Concept of Value in Health Economics and Outcomes Research: Emerging Tools for Innovation and Access to Cell and Gene Therapies for Rare Diseases,” was published in Value in Health.