Strike Rare Diseases at the Root!

The 13th International Rare Disease Day is taking place on this year’s leap day, the 29th of February 2020. What started as a European initiative, organised by EURORDIS, soon grew out to be a global occasion to raise awareness of complex rare disorders. Any disease affecting fewer than 1 in 2,000 people in the EU is considered rare. More than 70% of the more than 6000 known rare diseases have a genetic origin and 70% start in childhood. Even though 1 in 20 people will live with a rare disease at some point in their life, there is still no diagnostic tool or cure available for 95 % of rare diseases.

Therapies developed for rare diseases are known as orphan medicines. The rare nature of these diseases presents significant barriers for the development of such medicines. The low prevalence of these conditions leads to limited knowledge about the diseases, difficulty in diagnosis, and complicates the design of clinical trials and limited access to specialists in the healthcare system. The EU has addressed some of these challenges in the year 2000 with the adoption of the Orphan Medicines Regulation. It offered, among others, scientific advice on study protocols (such as on how to meet the criteria for orphan designation), regulatory fee reductions (which are particularly helpful for SMEs) and incentives to stimulate development of treatments. Since the adoption of this legislation, more than 160 medicines have been authorised in the EU for use in rare conditions. But many more treatments are needed to really address the rare diseases challenges.

The fast advancement of bioscience and genomics in recent years has vastly increased our understanding of rare diseases. This has paved the way for the discovery of breakthrough novel treatments which tackle the genetic root cause of these diseases. For example, the discovery of the CRISPR-Cas9 technique is revolutionising medicine research and development and with this our response to complex genetic disorders. CRISPR makes it also possible to precisely add, remove or alter genetic material of the DNA, and thereby to correct a malfunctioning gene causing a rare genetic disease.

More than 30 million people and their families are affected by a rare disease in the EU. Since the EU took action in the field of rare disease 20 years ago, significant positive changes have occurred with innovative orphan medicinal products. The fact that only 5% of all rare diseases can be tackled today emphasizes the need for a continued joint effort to encourage transformative medicinal technologies in a Europe that supports innovation. EuropaBio is committed to contribute to addressing the remaining unmet needs of EU patients with challenging rare diseases.