Why R&D into Rare Diseases Matter

Abstract

The total number of patients in Europe and the US suffering from a rare disease is estimated at 30 and 25 million, respectively. Moreover, rare diseases are not confined to Europe and the US, but affect people all over the world, and consequently represent a true global health issue. As such there can be no doubt that R&D into rare diseases matter. Specific orphan drug legislations across the globe have been introduced to stimulate the pharmaceutical industry to further develop and bring the necessary therapies to the market. A total of 400 of these products have made it to the market in the US, 70 have done so in the EU, and they are truly making a difference for specific patients suffering from a rare disease. However, for the majority of rare diseases no appropriate medical interventions or care exist. In this chapter will show that in the last decades considerable progress has nevertheless been made in rare disease understanding. I will show that translation of rare disease research into orphan drug development represents one of the most important steps towards alleviating the burden for patients suffering from a rare disease. Moreover, developing an orphan drug is certainly feasible, but also tough, not without risk and requires a great deal of persistence. In my view, the way forward to give a new stimulus to R&D into rare diseases is to ensure that countries across the globe join the fight against rare disorders. Apart from western world countries and Japan, other countries, like China, India and Turkey have to step into the arena thereby really making it a global fight against rare disorders. Recent data shows that this is exactly what is happening at the moment. Finally, if we want to move rare diseases to the next level we should not merely focus on stimulating rare disease R&D in general but also focus on the specific needs at disease (class) level. Of course, this should be done in close interaction with all stakeholders, including patient organizations and learned societies.