A rare disease, also referred to as an orphan disease, by definition affects a small percentage of the population. Most are genetic and appear early in life, with one in three children with a rare disease dying before their fifth birthday. While the definition of “rare” varies from country to country, the US defines a rare disease as “affecting fewer than 200,000 people in the United States,” according to the Rare Disease Act of 2002. With rare diseases affecting 350 million people globally, the desire to create new, effective treatments for these conditions is noble, but one fraught with complications.
Cost-Benefit Ratio Rules
Like it or not, pharmaceuticals is a business. The cost-benefit ratio for a pharmaceutical company must be balanced in a way that will allow continued funding for advancements in medical technology. Because of the massive cost associated with developing a drug to treat a particular disease, the population it reaches has to be large enough to balance out the bottom line. Legislation around the world has been aimed at incentivizing drug companies to study rare diseases, but things like extended exclusivity still come with a massive amount of risk.
Patient Recruitment Is a Challenge
By definition, rare disease is … rare. With few potential patients, recruiting a large enough sample size to establish drug efficacy is extremely challenging. Extended recruitment timelines and patients spanning states, or even countries, all translate into costs as much as 2000% of what normal patient recruitment costs. Even once the patients have been recruited, retaining them over long periods of time, especially when travel is required, is difficult at best.
No Room for Error
Data quality in every study is essential to the quality of the outcome. With a sample size of 100,000 people, there is a small margin of error. When developing treatments for rare diseases, there is no opportunity to “learn on the first patient.” Every patient counts, every outcome counts, and the quality of the data, including how it is entered and tracked, is of the utmost importance. Protocol deviations cannot happen. Dummy runs before the first patient can alleviate some of the likelihood of losing patient data to protocol issues, but ultimately having someone onsite to monitor patient interactions is vital.
Studying diseases is not for the faint of heart, but studying rare diseases takes an exceptional amount of fortitude. While the outcome may not affect a large population, it has a profound impact on those suffering from rare and orphan diseases.