Patients Take the Lead in Rare-Disease Research

by Jon Scaccia November 12, 2024

Imagine being one of only a few hundred people worldwide diagnosed with a condition so rare that even the medical community struggles to understand it. This is the reality for those living with TANGO2 Deficiency Disorder, a rare genetic disease that can cause life-threatening metabolic crises, developmental delays, and muscle weakness. This is just one over overall 7,000 “rare diseases.”

Rare diseases—those conditions that affect fewer than 200,000 people in the United States—may seem to impact only a small fraction of the population. Globally, however, the numbers add up to a vast network of individuals searching for answers, treatments, and hope.

Unfortunately, for rare disease patients patients and their families, navigating the healthcare system can feel like a solitary and confusing journey. Information about rare diseases is often scattered, outdated, or simply nonexistent.

For families affected by TANGO2, finding effective treatments often feels like a race against time. But what if those living with the disorder could play an active role in shaping the research? That’s the exciting focus of semi-recent research examining how engaging patients and their caregivers in rare disease studies could revolutionize treatment and care.

The Power of Patient Engagement

Patient engagement means involving people in the process of designing and conducting research. This concept isn’t entirely new, but its application in rare disease research is particularly groundbreaking. Rare disease organizations, which serve as crucial resources for patients and families, have begun to step into a new role—not just advocating for treatments but helping guide the research itself. The idea is simple but powerful: who better to ask about what matters most in managing a rare disease than the people living with it?

A systematic review of 35 studies examines into how this engagement is playing out, and the findings are promising. Across these studies, patients, caregivers, and other stakeholders weren’t just passive participants—they helped set research agendas, prioritize outcomes, and even design clinical trials. Many of these individuals partnered with rare disease organizations to connect with researchers and push for studies that would focus on the real-world needs of patients. The results suggest that this kind of collaboration could lead to more relevant, impactful research that benefits patients in meaningful ways.

Filling Gaps and Setting Priorities

Imagine living with a rare condition that few doctors know how to treat effectively. For many, this is a daily reality. In traditional research, scientists and doctors determine what to study based on what they think will yield the most interesting or publishable results. While this model has its merits, it doesn’t always align with what patients and caregivers are experiencing on the ground. The review highlights that when patients are involved in the process, the focus shifts. Instead of asking abstract scientific questions, researchers begin to zero in on issues that affect quality of life—such as managing symptoms, finding reliable treatments, and dealing with the psychological toll of living with a rare disease.

One standout example from the review involved patients who helped determine which symptoms and outcomes to track during clinical trials. Their input ensured that researchers measured what really mattered, like pain management, sleep quality, and mobility—rather than just focusing on more typical medical markers that may not fully capture a patient’s experience.

The Role of Rare Disease Organizations

Rare disease organizations have long served as lifelines for individuals and families affected by these conditions. Now, these groups are stepping into a new role as bridges between researchers and patients. They help recruit patients for studies, provide essential funding, and foster collaboration between research institutions. These organizations are also instrumental in disseminating research findings to their communities, ensuring that the people who need this information most can access it easily.

For example, in some cases, rare disease organizations have launched their own patient-powered research networks. These networks allow patients to directly contribute data about their health and experiences, creating a treasure trove of information for researchers. It’s a win-win: researchers get access to valuable real-world data, and patients have a say in what is studied and how the research unfolds.

The Missing Piece: Measuring Impact

While the review paints a hopeful picture of patient engagement, it also exposes a glaring gap: no studies have measured the effectiveness of these engagement efforts. Although researchers reported that patient input improved study design and recruitment, there’s no empirical evidence to back up these claims yet. Future studies will need to dive deeper into this question, tracking not only whether engagement leads to more inclusive research but also whether it results in better outcomes for patients.

Still, the potential is there. By making rare disease research more patient-centered, scientists can ensure that their work is both relevant and responsive to the real challenges people face. The hope is that this approach could speed up the development of treatments, improve patient retention in clinical trials, and ultimately make research findings more applicable to everyday care.

Challenges to Overcome

Patient engagement in rare disease research isn’t without its obstacles. For one, it requires significant time and resources from both researchers and patients. Many rare disease organizations operate on limited budgets and may struggle to balance research engagement with other priorities. There are also logistical challenges—patients may live far from research centers or may be too ill to participate in lengthy studies.

Another challenge is bias. Often, the patients who participate in these studies are those who are already highly motivated or well-educated about their condition. This can skew the findings, as their experiences may not fully represent those of the broader patient population.

Despite these hurdles, the review suggests that none of the challenges are insurmountable. With more investment in training researchers and patients alike, and with stronger partnerships between rare disease organizations and research institutions, the benefits of patient engagement could far outweigh the difficulties.

Implications of Patient Engagement in Rare Disease Research:

• Improved Quality of Life for Patients: By focusing on patient-centered outcomes like pain management and daily functioning, research can lead to more practical, meaningful improvements in patients’ lives.
• Faster Development of Targeted Treatments: Engagement can streamline clinical trials by focusing on the most relevant aspects of a disease, potentially speeding up the development of new treatments.
• Better Recruitment and Retention in Trials: When patients feel their voices are heard, they are more likely to participate in trials and stay engaged throughout the study.
• Increased Public Trust in Science: Transparent, collaborative research fosters greater trust between researchers and patient communities, improving the public perception of medical research.
• Enhanced Dissemination of Research Findings: Rare disease organizations can play a key role in spreading important study results more quickly and effectively, ensuring that research reaches those who need it most.
• More Inclusive and Diverse Research: Engaging a wider variety of patients ensures that research is reflective of diverse experiences and leads to treatments that are effective for a broader population.
• Long-Term Collaboration Between Patients and Researchers: Patient organizations can help establish lasting partnerships that drive continuous improvements in both research quality and healthcare delivery.

A Collaborative Future

The message is clear: engaging patients in rare disease research isn’t just a nice-to-have—it’s a necessity. The insights gathered from this review offer a roadmap for making this collaboration more effective and widespread. As more researchers begin to embrace patient-centered approaches, the hope is that we’ll see faster progress in developing treatments, improving patient care, and ultimately, offering more hope to those living with rare diseases.

Join the Conversation

What role do you think patients should play in guiding research? Have you or a loved one participated in a research study, and if so, what was your experience like? Share your thoughts in the comments or on social media!

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