Considerations in conducting Rare Disease studies: Lessons from our Boston Seminar

Written by: Jonathan Kornstein, Vice President of Rare Disease and Pediatrics– Aug 2025

During a recent dinner seminar in Boston, we shared deeply personal, practical, and strategic insights on what it truly takes to operationalize rare disease clinical trials. The event was filled with candid observations, compelling stories, and bold challenges to conventional thinking.

Here’s what we talked about:

Why Rare Disease Research Matters—Now More Than Ever

The rare disease landscape is growing at a staggering pace, with over 7,000 conditions recognized globally and more than 1,800 drugs currently in development. Yet the challenge remains: how do you reach, enroll, and retain patients who are often geographically dispersed and medically underserved?

At Caidya, our “why” is crystal clear: It is all about the patient, it is at the core of what we do… Every decision, every design, every conversation is rooted in the belief that patients (and their caregivers) deserve not just access to research, but an experience that respects their time, their challenges, and their hopes.

The Power of Patient-Centric Trial Design

A core theme throughout the presentation was the importance of patient-centricity -not as a buzzword, but as a blueprint. Unlike traditional trials, rare disease research requires rethinking the entire operational framework:

• You’re enrolling families, not just individuals. Especially in pediatric trials, the burden of participation affects parents, caregivers, and even siblings.
• You must go to where the patients are, even if that means flying them across borders or engaging non-traditional sites with little clinical trial experience.
• Reducing patient burden is essential. Whether that means offering Uber rides, home nursing support, or play areas for children at sites, every detail matters.  Making it as easy as possible for the patients is key!

Advocacy Groups and Social Media: Hidden Catalysts for Delivery

Rare disease communities are often tight-knit, deeply informed, and highly engaged online.

• Advocacy groups are more than allies—they’re gatekeepers. They influence trust, provide access, and often lead patients directly to your study.
• Digital listening is critical. Patients and caregivers openly discuss symptoms, trial experiences, and hopes in forums and social channels. Understanding these conversations can—and should—inform study design and help sponsors understand the patient pathway.

Building Global Studies with Local Expertise

With the right local relationships, expanding rare disease trials to underutilized regions like China, India, and Latin America can unlock untapped patient populations.

Caidya’s , distinctive global presence conducting trials in 50+ countries and regions, brings deep regional expertise, especially in China. With over 600 team members there, we’ve built the relationships with investigators and hospitals needed to run high-quality studies even in markets with limited public data.

But global reach must be paired with stringent quality controls, especially in regions where trial conduct experience may vary. That’s why we invest heavily in education, monitoring, and continuous site support.

Training, Transparency, and Trust

To truly lead in rare disease, internal alignment is as important as external execution. Caidya has invested in comprehensive rare disease and pediatric training modules for every member of our study teams. And our leadership doesn’t just oversee strategy—they stay involved from proposal to closeout.

Every study is guided by three pillars:

1. Timely execution
2. Patient retention
3. Data quality—our “third spoke of the wheel”

Creative Touches That Matter

From custom study branding and visit rewards for pediatric patients to transparent data sharing and post-study updates, small touches create big impact. These aren’t gimmicks—they’re tools to build connection, trust, and long-term engagement.

Final Takeaways

1. Design your study around the patient—not the other way around.
2. Build trust through transparency, flexibility, and education.
3. Use the power of advocacy groups and social media wisely—and respectfully.
4. Go global with local partnerships and cultural competence.
5. Never lose sight of data quality—especially in small trials where every datapoint matters.

If you’re a drug developer navigating this space, we’re here to help you bring not just therapies, but hope to the communities that need it most.

Learn more about our rare disease capabilities.