The Rise of Rare Disease Clinical Trials: Trends, Challenges and What Sites Are Learning
Rare diseases may affect only small pockets of the population, but in clinical research, they make an outsized impact. In fact, 45% of global trial starts in 2024 were focused on rare diseases, according to the IQVIA Global R&D Trends report.
Once considered too specialized or too risky, rare disease clinical trials are moving into the spotlight. This evolution brings new hope to underserved patient populations and challenges for those conducting the research.
At Remington-Davis (RDI), we’ve had the chance to support several rare disease studies and, in the process, gained insight into what it takes to do this work well. While we’re not positioned to take on every rare disease trial, we’ve developed thoughtful, flexible strategies to support these studies when the circumstances are right.
With that in mind, let’s unpack what’s driving the rise in rare disease clinical trials, the hurdles that come with them, and the lessons sites like RDI are learning along the way.
Why Rare Disease Clinical Trials Are on the Rise
Rare disease research has gone from a fringe segment into a major focus of global drug development. Several key forces are driving this shift:
1. Regulatory Support
Regulatory agencies worldwide have established frameworks to reduce the financial risk of developing therapies for rare conditions. In the U.S., the Orphan Drug Act provides benefits like tax credits, waived user fees, and extended market exclusivity for approved treatments. Similar policies exist in other regions, encouraging international investment.
Beyond financial incentives, regulators have introduced accelerated review pathways and flexible trial designs to help sponsors bring promising therapies to market more quickly. These tools are especially critical for rare diseases, where patient populations are small and the need is urgent.
2. Scientific Breakthroughs
Advances in genetic sequencing and molecular diagnostics have dramatically improved our understanding of the root causes of rare diseases—many of which are monogenic and well-suited to targeted intervention. New technologies, such as RNA-based therapies and engineered biologics, are enabling researchers to go beyond symptom relief and directly address underlying mechanisms of rare disorders.
This shift from generalized treatment to precision medicine has opened the door to more effective therapies—and in some cases, potential cures—for many rare diseases that previously had no approved options.
3. Patient Advocacy and Data Infrastructure
Patients and caregivers play a more active role advancing rare disease research. Through digital tools, disease-specific registries, and patient-led initiatives, clinical researchers have greater visibility into where patients are located and how best to reach them.
This improved data infrastructure makes rare disease trials more feasible by supporting patient identification and outreach efforts. It also enables researchers to design more relevant protocols by incorporating real-world perspectives from the rare disease community.
4. Increased Biotech Investment
Many small- to-mid-sized biotech companies focus on rare diseases as part of their core development strategy. These companies are often structured around highly targeted assets and operate with greater speed and flexibility than larger pharmaceutical firms.
They tend to seek out experienced, adaptable clinical research sites—those capable of quick activation, responsive communication, and patient-centric trial management. This dynamic creates new opportunities for sites with the expertise and infrastructure to support complex niche studies.
What Are the Challenges in Conducting Rare Disease Clinical Trials?
Despite encouraging momentum, rare disease trials face persistent obstacles that often limit feasibility, particularly at the site level.
1. Limited Patient Access
By definition, rare diseases affect small populations—many of whom may not live near a research site. Even when a trial fits within our therapeutic scope at RDI, geographic limitations make some patient enrollments unfeasible.
2. Recruitment & Retention
Finding patients who meet narrow inclusion criteria is difficult. Retaining them through complex protocols—especially in multi-year trials or those with intensive assessments—adds another layer of complexity.
3. Trial Burden
Rare disease trials involve intensive monitoring, unique endpoints, or investigational devices to collect clinical trial data. Without careful planning, these factors can increase patient burden and dropout risk.
4. Awareness Gaps
Patients may not even know a trial exists. They may also be hesitant to participate due to logistical concerns, trust issues, or a general lack of engagement with research infrastructure.
What RDI Has Learned From Supporting Rare Disease Studies
Rare disease clinical trials play an important role in RDI’s research strategy. While not every rare disease study is a fit, we’ve gained valuable experience from the trials we have supported. That experience has shaped how we approach recruitment, collaboration, and patient care for high-complexity studies.
Here’s what we’ve learned:
1. Recruitment Requires Precision and Realism
Because rare disease populations are, by nature, limited and often geographically dispersed, recruitment strategies must be both targeted and logistically practical.
At RDI, we leverage:
- A well-curated database of 16,000+ pre-screened volunteers
- Strategic outreach campaigns tailored to niche populations
- Partnerships with rare disease registries and advocacy groups
- Physician and community networks to identify eligible participants
We also understand the importance of early feasibility assessments. By being realistic and transparent about patient access during study planning, we help sponsors avoid delays and determine where RDI can add the most value.
2. Sponsor Collaboration Must Be Agile and Responsive
Rare disease trials regularly involve novel endpoints, custom devices, or adaptive protocol designs, demanding closer coordination between site and sponsor. Our team has learned that flexibility on both sides is essential for maintaining momentum and quality throughout the study lifecycle.
We support sponsors with:
- Rapid response times to protocol amendments or logistical changes
- A collaborative, problem-solving mindset during trial execution
- Direct communication with our principal investigators and operations team to streamline decision-making
This kind of partnership is particularly important in rare disease research, where protocol complexity is often high and the margin for delay is slim.
3. Patient-Centric Design Drives Retention
When study populations are small, every patient counts that much more. Our approach to rare disease trials reinforces what we already prioritize across all our studies: making participation as accessible and comfortable as possible.
We support patients through:
- Flexible scheduling, including evenings and weekends
- Transportation assistance, or remote engagement when feasible
- On-site amenities, like meals, private waiting areas, and Wi-Fi
- Clear communication, so patients feel supported and informed
- Home health nurse visits for labs, vitals, and study procedures, bringing the trial to the patient when needed
More than conveniences, these measures are retention strategies. Especially in longer or more demanding protocols, minimizing participant burden directly contributes to data continuity and trial success.
Supporting Rare Disease Research with Purpose, Precision and Partnership
The sharp rise in rare disease trials is a reflection of what’s possible when science, policy, and advocacy align around patient needs. For sponsors, it represents a quickly emerging space filled with promise. For research sites, it demands thoughtful execution and clear-eyed self-assessment.
At RDI, we’ve seen how meaningful and complex this work can be. Rare disease clinical trials have a place in our broader strategy as a focused opportunity where the right conditions make success possible. When there's a strong operational and geographic fit, we bring real-world insights and a flexible, collaborative approach to the table to help rare disease trials succeed.
If you're planning a rare disease trial and looking to explore site feasibility, we’re ready to talk.
Let’s find out together what’s possible. Schedule a consultation with us.