We Need 175,000 Scientists – Really!?

To find a solution for ‘all’ Rare Diseases worldwide …

Paul et al.* have reported success rates of 51 % for discovery research, 69 % for preclinical development, 12.8 % for the clinical development phases and 91 % for the submission phase, resulting in an overall probability of technical and regulatory success (PTRS) for drug R&D of 4.1 %.

Rare and genetic diseases represent a huge medical challenge worldwide, with it estimated that there are 7,000 different types of Rare Diseases worldwide.

So, with a 4% success rate – we would need 175,000 scientists/scientific teams in order to find a cure for all of these Rare Diseases! However, success has been greater than expected, with more than 400 Rare Disease drugs having been approved by the US Food and Drug Administration (FDA) since 1983, when the Orphan Drug Act passed.

But, at this rate of discovery and approval (averaging 12 per year), perhaps we are looking at 550 years before all Rare Diseases have a solution. In addition, the lack of funds and market incentives to cure or treat rare and genetic diseases exacerbates the problem.

There are new Rare Diseases that are discovered almost on a daily basis. 30 million people in the US are living with a Rare Disease, representing 10% of the population. In Europe, it is estimated to be the same percentage of people having one or another form of Rare Disease as in the US, and approximately 350 million people are affected worldwide by them.

In the US, a disease is considered ‘rare’ if it affects less than 200,000 people per disease. Interestingly, 80% of the Rare Diseases have genetic roots, and are present throughout a person’s life. While Rare Diseases are responsible for 35% of the deaths in the first year of life, 30% of the children with one or another form of Rare Disease die before the age of five. The race against Rare Diseases started with Genzyme from Boston, Massachusetts, a pioneer biotech company, who in the 1980s managed to make targeting Rare Diseases financially attractive, opening the door to more biotech companies in the field.

Experts consider that the development of solutions for Rare Diseases is at its beginning because of the technical advances in gene editing that have the potential to completely change the playing field. There are still many Rare Diseases that have only insignificant or no discoveries so far, and the patients need a lot of medical attention, making this field attractive to biotech companies like Genzyme, Actelion Pharmaceuticals, Lysogene and others. Small biotech companies are also developing Rare Disease programs internally, while they partner with other companies for more common indications.

Rare Diseases were definitely a blue ocean market in the past (lots of uncontested market space), but more and more biotech companies are joining the field, thereby transforming this low competition market into a more competitive one. The opportunity, as outlined above, is still huge – and we are excited to see the advances to be made with the unraveling of many of these genetic issues.

If you have some suggestions as to how to accelerate ‘finding the cure’ for Rare Diseases, let us know your thoughts.

*Paul SM, et al. How to improve R&D productivity: the pharmaceutical industry’s grand challenge. Nat Rev Drug Discov. 2010;9:203–214.