An orphan drug is a medication that is used to treat life threatening rare diseases (an orphan disease), for which no treatment, or no satisfactory one, has so far been available. Rare diseases in the US are those that affect less than 200,000 Americans. In Europe it is a condition that affects less than 1 in 2000 people.
These are drugs that would not normally be profitable to manufacture and distribute because the patient pool is so small and the cost to develop is so high. To encourage drug manufacturers to look at rare disease, the orphan drug programs (in the US, Europe, Australia and Japan) offer huge incentives to bring to market drugs that focus on rare diseases. Some of these incentives in the US program include – 7 years of exclusivity that stops competitors from selling the product labeled for the same orphan indication, a tax credit on clinical trial and testing expenses, the waiving of millions of dollars in FDA user fees and up to $18 million in FDA research grant funding. Blau syndrome fits the criteria of the orphan drug act and therefore there is significant potential for finding better treatments, or even better... a cure.
On top of this there are different requirements during clinical trials and much smaller patient
numbers are needed. The program has been a deemed success because in 1983, the year the program began, there were only 34 approved drugs for rare disease, today there are almost 800. Sounds good, BUT, it is not good enough or happening fast enough and more than 90% of rare diseases have no approved treatment at all!
Orphan drugs can end up being very profitable for the companies who manufacture them as not only do they get exclusivity, but also the drugs will be used for other more common diseases. For example, Humira gained orphan drug status and is now one of the world's highest selling drugs, bringing in over 18 billion in sales in 2017.
For rare disease patients orphan drugs at least offer a hope that their condition might get looked at. And this is why I attended the World Orphan Drug Congress in Washington DC.