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Patients Are Waiting: Speeding Time to Treatment in Rare Disease

Companies are overcoming challenges to develop, launch, and educate on new rare disease medicines faster.

Rare diseases are no longer rare. Every year, people’s lives are upended by a diagnosis of one of ​​6,000–8,000 identified rare conditions, which collectively affect one in 17 people. Because a majority are genetic and appear early, more than half of these patients are children, and many are not expected to reach their fifth birthday. 

For patients left waiting, the stakes for new medicines are high. Yet, less than five percent of rare diseases have at least one approved treatment. Even when effective therapies and medicines exist, reaching the right patients in need is challenging. Survey data depicts a long and emotionally gruelling journey for those awaiting a diagnosis. For adults, it can take up to five years, and half will receive a misdiagnosis.1

Rare diseases challenge traditional ways of doing business. They require the industry to better identify target patient populations for trials and then keep them engaged during the course of the study, even across geographies. Once a medicine is approved, it is crucial to seamlessly transition from trials to treatment given the smaller patient cohort, as the physicians who conduct the trials often become prescribers. 

The good news is that the industry is making great progress in how medicines for rare diseases are developed and brought to market. From delivering better site support during clinical studies to greater connectivity between medical and commercial teams, companies are breaking down historic silos and cutting the time to treatment. Along with richer healthcare data and effective medical education for physicians on symptoms and treatment options, these advances will help those undergoing complex patient journeys.

Greater Focus on Patient Experience During Studies

Over half of orphan drug trials are eventually discontinued or fail to publish results after completion.2 Often, studies can’t recruit or lead to inconclusive results. When a trial gets off the ground, sites have to invest significant time in keeping a small number of participants engaged.

Removing excessive system and process complexity will improve their efforts. For years, sites have voiced their concerns about the multiple disconnected tools they must navigate just to keep a study going. As one site leader explains, navigating unintuitive technology absorbs time from trial activities, and can make them feel like they’re asking too much from patients: “The technology shouldn’t be the trial itself, it should support the trial. It’s taking time away from what we want to do, which is taking care of our patients.” Simplifying the technology experience and reducing the admin burden will better meet sites’ and patients’ needs.