Gilberto: The rare disease market is unlike other therapeutic areas in some key ways:

• Payers may not be familiar with the disease and therefore underestimate the burden and unmet needs faced by these patients.
• With a small patient population, recruitment is challenging and the number of patients in clinical trials is typically small, limiting the strength of the data package.
• The costs of development are high for a small patient population, leading to high price per treatment and the perception of high budgetary pressure for payers.
• In many countries, rare disease patients and/or their caregivers are organized in particularly active patient associations.

Integrating patient value into payer communication is critical to address or leverage these specific issues in rare diseases.

Giulia: Companies need to define and measure patient-driven value in rare disease from both a quantitative and qualitative perspective. Both aspects are integral, although some regulators, payers, and manufacturers still look at qualitative data as less important and informative than quantitative.

Patient experience data must blend quantitative PROMs, PREMs, and patient-informed economic metrics with qualitative patient data collected through advisory boards, ethnographics, or in-depth interviews. This allows payer communications to reflect the realities of rare disease care and elevate and contextualize the quantitative information and the treatment value proposition.

Gilberto: From a payer’s perspective, the key challenge in understanding the value of new rare disease treatments is limited clinical and economic data packages. Payers are aware of the limitations inherent to rare disease research, but with increasing budget pressures, their priority is to maximize value and minimize risk. Therefore, completing the picture with the qualitative aspects of treatment value for patients and caregivers is vital.

Manufacturers can also explore opportunities for value-based healthcare access schemes. The goal of such programs is to share the risk associated with limited data packages between manufacturers and payers. There are many models of value-based healthcare; for example, relating the level of reimbursement to patient outcomes and, importantly in rare disease, real-world evidence generation.

Giulia: When looking at patient value in payer communications through a patient engagement lens, the challenges aren’t only about data, but also about ensuring that communications reflect what matters most to patients and caregivers.

The Duchenne muscular dystrophy case is probably the most famous example. Treatment efficacy was measured in trials using only metrics like “forced vital capacity” or “six-minute walk test” that didn’t reflect how patients experienced change. The developer translated these new results into PROMs on upper limb function and daily life activities by involving the patient community and co-designing data collection with patients and caregivers.

Giulia: In some ways, rare diseases can present fewer challenges for value-based communication compared to broader therapeutic areas with larger populations, more treatment options, and less cohesive patient voices. In the rare disease space, patient communities are highly engaged, organized, motivated, and vocal. These patients and families have long fought for recognition and treatment options. Unmet needs are usually severe and obviously difficult, simplifying the case for value.

Regulators and payers are more receptive to patient-centered evidence today, and more likely to accept it as essential alongside clinical data. Also, the EMA and FDA both have rare disease programs that explicitly emphasize patient involvement in value demonstration, making communication frameworks more patient-friendly.

Having said that, consistent, systematic, meaningful, and proactive patient engagement is still not standard, even in rare diseases. Payers can still challenge patient engagement despite its value in generating value evidence.

Gilberto: While limited data packages in rare disease treatments are a key challenge in communicating value to payers, they also offer an opportunity. The burden of proof required by payers and Healthcare Technology Assessment agencies is typically lower for rare diseases compared to diseases with large patient populations. This allows companies to shift the focus of their payer value communications away from numbers and significance levels to the qualitative, human side of the story.

Gilberto: For decades, payer value communications followed a very strict format of slides and written evidence-based documents. These traditional requirements are comprehensive but sometimes challenging for companies and payers in today’s fast-paced environment. New technologies, including digital tools and AI, are beginning to open new models of payer value communications. Companies can create more interactive, visually appealing communications that allow the user to explore at their own pace and quickly find relevant information.

Also, payers, like everyone else, seek information online. Manufacturers of rare disease treatments should develop readily accessible, impactful information on the disease burden, current treatments or lack thereof. And of course, when the time comes, they should add information on the value of their own product.

Giulia: It’s also important to note that patient communities today have stronger voices in front of payers. Patient advocacy groups are currently involved, to different degrees, at the Healthcare Technology Assessment level, where they can comment and sometimes even vote on new technologies. Additionally, everyone has great expectations for the new Joint Clinical Assessment process, which will affect rare diseases starting in 2028. We expect patients to play a key role in defining meaningful outcomes and shaping PICO frameworks.

With these factors at play, manufacturers can deliver richer, patient-informed evidence that strengthens payer communication and supports faster access.