Amy Raymond
Amy Raymond
Clinical Scientist, Rare Diseases – Scientific Affairs

Imagine being sick and having to see eight different physicians over five years, just to be diagnosed. That’s the average experience for a rare disease patient. Now imagine that after finally learning your diagnosis, the physician explains that there are no clinically-proven treatments for the disease you’ve just been told you have. That’s the experience for patients with 95% of the known rare diseases.

Read more here as PRA experts discuss the unique challenges drug developers face when planning and conducting global rare disease trials, and the robust potential that cross-border enrollment can have in navigating regulatory boundaries.

In the United States a rare disease is defined as a condition that affects fewer than 200,000 people in the country, and meets European criteria when it affects fewer than 1 per 2,000 people. There may be as many as 7,000 rare diseases, impacting approximately 360 million people around the globe. There are several factors that go into making each rare disease difficult to diagnose. For example, outside the setting of a highly specialized clinic, a typical physician sees a rare disease patient infrequently. This makes it very difficult to immediately identify a case without carefully ruling out the more common, therefore more probable, disease drivers. While there are thousands of rare diseases, it’s worth noting that roughly 80% of rare disease patients will be diagnosed with one of the 350 most prevalent rare diseases.

When you imagine that you or your child is the rare disease patient, how far would you go in search of meaningful treatment? This could be a figurative question, but it also has literal applications.

There are always practical constraints that limit the number of countries and the number of research clinics in those countries that are enrolling patients in any clinical trial. By the very nature of a disease being rare, patients of any rare disease have a low population density and wide geographic distribution. Geography can be a major barrier to enrolling rare disease clinical trials, much more so than drug development efforts in non-rare indications.

One very useful technique for enrolling the appropriate rare disease patients into clinical trials more quickly is Cross-Border Enrollment. With careful planning and thoughtful execution, it is possible to reach international rare disease patients without opening clinical research sites in all countries. There are certainly logistical, ethical, and regulatory considerations to be taken into account when designing a successful Cross-Border Enrollment plan. This approach is not a one-size-fits-all solution, but where appropriate helps us all achieve our shared goal: more and better treatments, sooner.

This is a time of justified hope for the rare disease community. As we increase our understanding of the biology behind these diseases, massive drug discovery efforts become more targeted and more effective. Add to this all of the technological and manufacturing advances surrounding cell therapy and gene therapy treatments, plus an increasingly efficient regulatory landscape meant to speed the drug development lifecycle. We are truly on the front end of a wave of much-needed treatments currently in discovery and development. As we address more of the upstream challenges, it becomes more important than ever to recognize and solve barriers such as geography.

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