Rare Disease Clinical Research Trials
There are more than 7,000 distinct and identifiable rare and orphan diseases affecting up to 400 million people worldwide. More “common” rare diseases are likely to be well known, including cystic fibrosis or hemophilia, whereas ultra-rare diseases (those the EU considers to be less than 1 in 50,000) will be less well known. Due to advances in genomics, there are around 250 new rare diseases being identified annually, most likely with only a few individuals or families affected worldwide. Rare disorders are often debilitating and life-threatening, having a significant impact on the daily lives of patients and their families. Most rare diseases have an established genetic link (72 - 80%), however, they can manifest in other ways, such as an immunogenic response, the consequence of an infection, reaction to a toxin or an adverse drug reaction, as examples. While this category of diseases is often referred to collectively, rare diseases span across all therapeutic areas and often affect multiple organs. Even for those that study rare diseases, understanding causes, impacts and how to gather data through clinical studies is often challenging.
