According to a story from Xtalks, there has been an uptick in research related to rare diseases and the development of new therapies for them. Despite this, only a small number of research studies ultimately end in the approval of a new rare disease therapy. While the situation for developing rare disease drugs is starting to improve, there are still a number of barriers to market approval that rare disease drugs face that other treatments do not. The fact remains that the majority of rare disease lack approved treatments. Factors such as high development cost and the potential risk of low investment return can be discouraging to some drug developers.
Issues With Diagnostics
One of the major barriers when it comes to making effective rare disease drugs are the limitations of rare disease diagnostics and the frequency of delays to diagnosis. There are still a number of rare diseases that are usually identified by certain signs and symptoms, but this is not always reliable. Many rare diseases share symptoms with more common ailments and the general lack of awareness among physicians means that it is easy for a patient to be incorrectly diagnosed. Scientists may not have even reached scientific consensus on the defining characteristics of a disease. These limitations make it harder to make therapies based on objective data.
Thankfully, advances are being made in this area. Significant advances in genetic sequencing technology have made it easier to achieve and accurate diagnosis.
Small Patient Population
Another challenge to rare disease drug development are the inherent limitations on patient enrollment. In many rare disease it can take a long time to find enough patients to participate in a clinical trial that will be large enough to produce any meaningful outcomes. It can be even more challenging when other factors, such as inclusion criteria, make the eligible patient pool even smaller.
More optimized trial designs that account for small patient populations and sustained outreach and awareness efforts about clinical trials can help mitigate this challenge.
Lack of Outcome Standards and Measurements
The limited research and testing of rare diseases means that there is often a lack of standards in regards to meaningful endpoints and useful assessments of outcomes. The presentation of a single rare disease may vary considerably for each patient.
It is useful for researchers who are studying the same disease to collaborate and agree to share the same standards for evaluation, which will also make the results that they find more meaningful.