Earning Their Trust: Challenges and Best Practices in Rare Disease Patient Recruitment

Rare disease patient recruitment is difficult because each condition affects a very small, often geographically dispersed population. Long diagnostic journeys, frequent misdiagnoses, low awareness of available trials, and the daily burden of living with a rare disease all limit the pool of eligible and reachable participants — even when patient interest is high.

Delayed and incorrect diagnoses significantly reduce recruitment opportunities. Many rare disease patients wait years for an accurate diagnosis, and some innovative therapies have narrow treatment windows. Without timely diagnosis, patients may be excluded from trials altogether, even when they could otherwise benefit.

AI has the potential to shorten diagnostic timelines, improve trial matching, and reduce administrative burden, enabling more patient centric trials. However, success depends on transparency, bias mitigation, secure data handling, and integrated digital infrastructure. Clear communication about how AI is used is critical to maintaining patient trust.