Unique Challenges in Rare Disease Research

In a recent video interview with Applied Clinical Trials, Derek Ansel, vice president, therapeutic strategy lead, rare disease, Worldwide Clinical Trials, discussed the unique challenges in rare disease R&D, including competing priorities among researchers, difficulty in diagnosing and treating patients, and defining endpoints due to varying symptoms. Ansel also touched on the potential of technology and artificial intelligence to address some of these challenges and improve rare disease research.

ACT: What are some unique R&D challenges to the rare disease space that the industry is currently facing?

Ansel: It's a great question, Andy. There's a lot of challenges that the rare disease space is facing right now, differences in competing priorities, whether that's between researchers, advocacy organizations, biotech companies, and even regulators, because rare disease is difficult to diagnose and treat these patients, there's sometimes differences in how do we do that? How do we handle their care? You can imagine the downstream effect that has and every other aspect of a patient's life with a rare disease. Also, finding endpoints is becoming a challenge. It has always been a challenge. A lot of the rare diseases we treat today don't have the same symptoms. We don't see the same severity of symptoms in all patients, so when you go and create a clinical program to prove that your drug is efficacious or effective and safe, regulators really look for defining data, defining criteria that prove that your drug, of course, works, and that can be really challenging when your patients have a spectrum of symptoms that go across every organ. It's hard to find a measurable change and maybe one symptom that not everyone in the patient population experiences, so I would always say that endpoints are particularly challenging in rare disease. Probably last but not least is funding. Rare is difficult because, collectively, rare is not rare, but as you start to narrow down the rare umbrella into very precision-based medicine, or grouping subpatient populations by genotype, your numbers go from quite large to very, very small and very narrow, so as you start to cut the pie, if you will, of funding to each of those groups, there's only so much to go around. I think rare disease is always faced with financial restrictions and considerations when it comes to R&D.