Elevating Patient Voices to Change the Narrative in Rare Disease Research

Patient-centered research is vital for addressing the information gap in rare disease treatment between pharmaceutical manufacturers and patients. At KJT, we promote the integration of the patient voice throughout the entire product lifecycle; however, rare disease research poses unique challenges due to data scarcity, inadequate representation, geographical constraints, and other significant barriers.

In anticipation of Rare Disease Day 2024, we outlined how we’re actively working with pharmaceutical and biotech manufacturers to change the narrative by overcoming these challenges and incorporating the voice of patients – especially those with rare diseases – across the entire product lifecycle. We invite you to do the same and offer guidance to get you and your organization started.

1. Map Your Patient’s Journey

We believe this is an essential step in any drug development process. While manufacturers are moving toward more holistic approaches, there’s still a long way to go. Advances in real-world evidence (RWE) generation and acceptance are empowering manufacturers to better account for the entire patient experience. Still, market access and social determinants of health^[1], crucial for real-world health equity, are not considered to the extent they should be.

Patients with rare diseases often face challenges such as living far from qualified specialists, delayed diagnoses and treatment, and treatment compliance due to symptoms and caregiver support. These challenges are significant to patients, yet, will not surface in an analysis based solely on medical claims or electronic health records. While these sources tell part of the story, they do not provide enough clarity around what is really happening and how to improve the patient journey.

Our goal: Close the information gap by understanding the “why” behind decisions and the deficits in diagnosis and treatment for patients with rare diseases to build a full picture of their truly unique and challenging journey beyond what is captured in secondary data.

2. Focus Development Efforts on Drugs that Solve for Unmet Patient Needs

Drug pipelines often reflect a manufacturer’s capacity and capabilities, but do not always meet patients’ true (and unmet) needs. Despite business constraints, prioritizing patient needs early on ensures that resources address overlooked factors.

Let’s consider a hypothetical example:

Patients with a specific rare condition must use a subcutaneous injectable medicine once per week. A manufacturer is developing an oral therapy they believe is more convenient and less invasive, providing a better patient experience while differentiating from competitors. At face value this sounds ideal, but do patients want this? It must be taken twice daily, which could be seen as less convenient, especially if their current treatment is working for them.

Ultimately, exploring these factors requires minimal time and investment in the grand scheme of development, while paying dividends in ensuring future receptivity. Despite the challenges of researching rare diseases due to small patient populations, it’s crucial not to skip this step. Qualitative methods focused on depth of insights are key for integrating patient voice into development processes. Even with small samples, we can learn volumes about treatment performance compared to patient expectations and desires – this is the gap where we find the inspiration that drives successful product development.

Our goal: Help manufacturers align their efforts to the interest of patients with rare diseases through research that aims to uncover unmet needs and desires, as early as possible in the development process in a manner that is cost-effective and impactful.

3. Humanize the Science Every Step of the Way

Clinical trials are necessary for approval but do not reflect performance in the real world. Historically, the patient voice hasn’t been a valued part of regulatory approval processes, but this is changing and within the past four years we’ve seen the FDA grant approvals based on non-traditional approaches for data collection.

Therapies for rare diseases face a unique challenge: they are, by definition, diseases that exist among a small population, and sufficiently recruiting for a gold-standard randomized clinical trial is difficult. While the FDA’s Orphan Drug Act helps incentivize manufacturers to take on this challenge, it doesn’t change the size of the population from which we can recruit patients.

Thankfully, the FDA is now allowing RWE into clinical trials, supporting Patient-Focused Drug Development – this is something we believe is incredibly beneficial to advancing care for patients with rare diseases. Incorporating patient voices in RWE, via patient-reported outcomes and patient experience data, allows manufacturers to support small clinical trials with impactful RWE. We recommend manufacturers plan for complementary research activities that run alongside clinical trials to capitalize on this changing dynamic.

Our goal: Help manufacturers humanize the entire product lifecycle through holistic research, centered around the patient voice, starting with research that will complement clinical trial evidence.

4. Prioritize Hearing and Acting on the Patient Voice

Using the patient voice in marketing is already common practice for drug manufacturers. What’s new is the amplification of this voice throughout the product lifecycle. Rather than using these insights solely for their benefit, we’ve been working with manufacturers to share them with patients, physicians, payors, and other stakeholders to enhance care and access.

From a medical and scientific communications standpoint, we recommend not only capturing the patient voice in what is being published but consider how to craft content that will directly benefit patients (rather than focusing solely on a medical audience). Creating plain language summaries, graphical abstracts, etc. can be impactful for patients with rare diseases who often have to self-advocate and become subject matter experts to reach a correct diagnosis and effective treatment plan.

Our goal: Help manufactures find effective ways to broadly amplify patient voice, ensuring rare disease patients (and the providers that treat them) can hear from others like themselves while gaining access to information and resources that will further improve patient care.

5. Establish Online Patient Communities

Patients with rare diseases may face challenges participating in traditional research due to symptoms, travel, communication, scheduling issues and more. Online communities provide a convenient platform for them to share experiences from the comfort of their homes.

These online moderated communities, centered around patients, provide manufacturers the opportunity to capture the patient voice amid the challenges faced by patients with rare diseases. While incentivized with an honorarium, patient participation is further motivated by learning from and giving back to the community. This fosters honesty and better responsiveness compared to more traditional research methods and elicits a wealth of information that forms the basis for organic insights.

Our goal: Foster symbiotic relationships between patients with rare diseases and manufacturers to ensure the patient voice is consistently at the center of research that informs product development, commercialization, and use, while building networks from which patients will benefit.

[1]Non-medical factors that influence health outcomes – living/working conditions, age, and systems shaping patients’ day-to-day lives

At KJT, we strive to elevate the voice of patients with rare diseases and take pride in our part to help foster advances in care for patients with rare diseases. We tailor our solutions for your business with these patients top of mind, and our proven approaches to integrating patient voice across the entire product lifecycle helps you improve patient lives and health outcomes.

We invite all stakeholders in medical research to join us in this mission. Let’s change the narrative in rare disease research by putting patients at the center of all we do.

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