Driving Smarter Rare Disease Trials with Natural History Studies and Real-World Data

January 2, 2025
3 min read

Rare disease trials face extraordinary challenges. Imagine navigating uncharted waters with a small and dispersed patient population, each living with a disease that remains largely mysterious. It’s a daunting task—but one that can lead to incredible breakthroughs for patients and their families.

By using tools like natural history studies (NHS) and real-world data (RWD), clinical trial sponsors can transform these challenges into opportunities. These tools provide a deeper understanding of diseases, enabling trials to be designed with precision and empathy. Even more exciting, they help connect the right patients to the right trials at the right time, creating a lasting impact on both the research community and patients' lives.

What Are Natural History Studies?

Think of a natural history study as a story—one that follows a disease’s progression over time. These studies have traditionally tracked untreated patients to understand the natural course of a condition. Today, many include participants receiving standard care or experimental therapies, offering a richer and more inclusive picture.

Stories That Have Already Changed Lives

           • Duchenne Muscular Dystrophy (DMD):

          In the Cooperative International Neuromuscular Research Group (CINRG) Duchenne Natural History Study, 440 patients were observed over 10 years across nine countries. This monumental effort uncovered critical patterns in disease progression, helping shape smarter treatments and trials.

          • Spinal Muscular Atrophy (SMA):

          The RESTORE registry gathers insights from patients with SMA, tracking long- term outcomes and guiding the future of SMA therapies.

           • Huntington’s Disease (HD):

          ENROLL-HD, a global registry with over 22,000 participants, unites research efforts to uncover new knowledge about disease onset, genetics,  and progression. Every patient’s story contributes to a shared goal: a meaningful treatment breakthrough.

What Is Real-World Data?

           While clinical trials offer controlled conditions, real-world data captures life as it happens. Whether it’s patient registries, insurance claims, or insights shared on social media, RWD paints a vibrant picture of how diseases affect people  daily.

How Real-World Data Makes a Difference
  • Understanding real care: What does standard treatment look like outside of a trial?
  • Quantifying the human toll: How does a disease impact patients’ physical, emotional, and financial well-being?
  • Identifying early signs: Can we spot the subtle signals that mark disease onset?
  • Revealing hidden patterns: How do demographics and genetic traits shape patient experiences?
  • Finding new possibilities: Could novel markers and endpoints drive better outcomes?

With RWD, the possibilities are endless. It’s the bridge between science and humanity, offering insights that not only improve trial outcomes but also give hope to patients who need it most.

Revolutionizing Patient Recruitment

Refining Criteria to Find the Right Patients

          NHS insights reveal key milestones in disease progression. By tailoring inclusion and exclusion criteria accordingly, sponsors can focus their outreach on patients who are both eligible and most likely to benefit.

Speaking Patients’ Language with RWD

          RWD sheds light on how patients and caregivers communicate and connect. Sponsors can use this information to craft messages that resonate—meeting patients where they are and engaging them with empathy and clarity.

Adjusting Course with Real-Time Data

          Imagine tracking recruitment efforts in real-time, understanding what’s working and what’s not. RWD enables sponsors to fine-tune strategies dynamically, ensuring patients are engaged and recruitment goals are met.

Overcoming Challenges with NHS and RWD

While these tools hold immense potential, challenges remain:

  • Data quality: Ensuring accuracy and completeness is critical.
  • Contextual understanding: Data is only meaningful when viewed through a human lens.
  • Accessibility: Privacy laws and proprietary databases can limit access.
  • Data integration: Bridging gaps between disparate sources requires innovation.

Addressing these challenges is a shared responsibility, but the payoff—better trials, better treatments, and brighter futures—is worth the effort.

Let’s Work Together

PatientWing believes that every patient’s story matters. Let’s collaborate to transform your recruitment strategies and make a difference in the rare disease community. Contact us today to start a conversation about how we can support your current and future projects.

Be the first to read
our latest insights!
By clicking submit, you consent to PatientWing contacting you in accordance with their Privacy Policy. You will be able to unsubscribe from PatientWing communications at any time.
Thank you! Your submission has been received!
Oops! Something went wrong while submitting the form.