Rare disease trials have a recruitment problem, but the problem often begins well before recruitment starts.
There are now more than 10,000 identified rare diseases, yet only around 5% have an FDA-approved treatment. Nearly one in ten Americans lives with a rare disease, and an estimated 72% of rare diseases have a genetic origin.
Developing treatments for these populations remains exceptionally difficult. Recent analyses have found failure rates exceeding 75% across non-oncology orphan drug development programs, with recruitment and retention among the persistent challenges facing rare disease studies.
For genetically stratified trials, the difficulty becomes even more acute. The patients carrying a specific qualifying variant may be extremely rare, geographically dispersed, undiagnosed, or simply invisible to traditional recruitment infrastructure.
Sponsors often respond by increasing outreach. However, outreach isn’t where the problem actually originates.
Traditional patient recruitment typically relies on a combination of clinical sites, patient organizations, databases and broad awareness campaigns.
Each of these channels can play an important role. But when eligibility depends on a specific genetic variant or biomarker, reaching more people doesn't necessarily mean reaching more eligible people.
Broad campaigns can generate large numbers of interested participants who ultimately fail genetic or clinical screening. Site-led approaches can identify highly relevant patients, but rare populations may be scattered across geographies and healthcare systems, forcing sponsors to activate more sites and referral pathways to find relatively few eligible participants.
The wider clinical trial landscape shows how persistent the accrual problem remains. A review of 1,197 National Cancer Institute-affiliated Phase II and III trials found that 19.3% failed because of low accrual.
Rare disease adds another layer. Patients may wait an average of around six years for an accurate diagnosis, meaning many potentially eligible patients may not even have reached the point where a conventional trial recruitment pathway can find them.
When diagnosis can take years, starting recruitment with an unscreened population adds another layer of difficulty.
Recruitment is usually treated as an execution challenge: which sites to open, which channels to activate, what messages to run, and how much budget to put behind them.
For genetically defined rare disease populations, it can be more useful to frame the challenge as one of identification. That changes the sequence of questions. Instead of asking only, “How do we reach more patients?”, sponsors can ask:
The implication is that patient finding needs to begin earlier and draw on more than recruitment channels alone. Genetic and biomarker information, diagnostic infrastructure, patient engagement and trial execution need to work as a connected system rather than as separate steps.
That is the thinking behind a new partnership between Sano Genetics and Labcorp.By bringing together complementary capabilities across patient identification, diagnostics and engagement, the partnership is designed around a different starting point for rare disease trial recruitment. At DPHARM, Sano and Labcorp will explore what that model looks like in practice and where it can change the predictability of patient finding.
There is a second structural issue with traditional recruitment.Most recruitment infrastructure is built around a single protocol. Sponsors invest in finding, educating and screening a population for one trial. Patients who aren't eligible may have no obvious route into the next relevant study, even when another program targets a related disease, biomarker or genetic subgroup. For pharmaceutical companies building multi-asset precision medicine portfolios, repeatedly starting from zero becomes increasingly difficult to justify. The more valuable question is whether work done for one study can create knowledge, relationships and infrastructure that remain useful for future programs.
That shifts the conversation from: “How do we recruit patients for this trial?” to “How do we build patient-finding infrastructure that becomes more useful across the portfolio?”
The implications extend beyond enrollment. Earlier characterization and an ability to maintain appropriate relationships with patients over time could influence feasibility planning, future study design and how sponsors think about the long-term value of patient-finding investments.
Exactly how that infrastructure can work in practice is something we'll explore further at DPHARM.
Rare disease recruitment will always be challenging. Small populations, complex genetics and geographic dispersion aren't problems that can simply be optimized away. But sponsors can change when they begin solving for them.
If genetic characterization and patient identification only become priorities once enrollment is under pressure, the number of options available is already limited. Bringing those questions further upstream creates an opportunity to test assumptions earlier, understand the available population more realistically and build the infrastructure needed before a study becomes dependent on it.
For sponsors planning genetically stratified rare disease programs, one useful question to ask now is:
How early in our development process do we actually start solving for patient identification?
The answer may matter far more than which recruitment channel gets added later.
Come see Sano Genetics and Labcorp discuss this approach in a live session at DPHARM, including examples from rare disease programs and a closer look at the model behind the partnership. Here are the details:
A Precision Model Leveraging RWD to Accelerate Recruitment for Rare Disease Clinical Trials
Wednesday, September 16
03:15 PM - 03:35 PM
Constitution B
Learn more about the session here. You can also find Labcorp at booth 307 and Sano at booth 308 during the conference.