Dare to meet the need in rare!

Coincident with the lengthening of daylight hours and the imminent forwarding of the clock, both signs that we are nearing the beginning of March, comes Rare Disease Day. This worldwide series of events occurs on the last day of February each year and is organised by EURORDIS, the European organisation for rare diseases. 

So who is EURORDIS and what is Rare Disease Day exactly? Well, EURORDIS is a non-governmental patient-centric alliance of almost 750 individual rare disease organisations; that number alone says a lot about the magnitude and scope of the problem and movement that is rare disease advocacy. It's underlined by the fact that some 50% of existing rare or orphan diseases affect children. 

In many ways, given the low prevalence of rare diseases (by definition, less than 200,000 patients in the USA), the best way to focus serious attention on the issue is to join forces and create a larger footprint between big pharma and their desire to fill their pipelines with blockbuster drugs for major diseases. Although there has been unquestionable progress in steering big pharma R&D in the direction towards rare disease drug discovery, the current controversy is primarily on how much those exciting new treatments should cost.

The political landscape for both big pharma and patient advocacy groups has been shaken (to see the least!) by recent administration changes south of the border, and given that Obama and Trump are not even as similar as chalk and cheese, no one is sure what will happen next. Apart from some occasional bleating, Obama was always pretty friendly to big business such as the big banks and big pharma, and it's far from clear how Trump is going to impact things. 

Some of these treatments for extremely rare diseases can cost exorbitant amounts while also being difficult to access here in Canada, which doesn't strictly have a rare/orphan disease policy or set of regulations. In fact, Health Canada doesn't even have a definition of rare diseases, even though they say they are working on developing an orphan drug regulatory framework that will encourage drug development and provide better access to existing drugs.

As stated above, the US-based criterion for orphan status is a current number of 200,000 patients at a given time. In Europe it is categorised differently, wherein a prevalence of less than 1 in 2,000 people is identified as a rare disease or disorder. The spectrum is pretty wide even inside that narrow-sounding category, such that in the EU one rare disorder could affect a mere handful of individuals while another may impact around 250,000 people. Further, it is estimated that in Europe as many as 30 million people suffer from one of a staggering 6,000 existing rare diseases. 

Canada's lower population in part explains lack of organisation around this issue, but by any measure Health Canada is lagging behind, badly, and needs to get some policy around this problem if patients are to have a chance at accessing such drugs at a remotely affordable price. In a recent example of the problem in Canada, the announcement by Marathon Pharmaceuticals that they were raising the price of a generic drug (deflazacort) for Duchenne Muscular Dystrophy (DMD) to almost $90,000 USD was only part of the problem. 

Marathon isn't even intending to market the drug in Canada, because the USA represents their target market, and it probably isn't worth their while promoting it's use north of the border. But $90,000 for a generic drug that costs mere hundreds for a year's supply, imported from elsewhere? So much for the era of Shkreli and Pearson being over! For their efforts, Marathon also received a voucher from the FDA, which inandof itself could be worth hundreds of millions of dollars. So it's (big) business as usual, in other words.

Donald Trump does have strong views on the whole pricing question, but he also loves big business and has no problem with savvy businessmen (himself included!) making bucketloads of money. The recent get-togethers with the CEOs of big pharma at the White House must have been fascinating in terms of such conversations, not least as essentially everyone is quaking at the prospect of Trump's take on not only big pharma drug pricing but also his choice of the next leader of the FDA. Moreover, tomorrow morning he sits down with the big healthcare insurers, such as Aetna, Signa and UnitedHealth, and that's another conversation with far-reaching implications.  

In any case, Tuesday is all about increasing global awareness of the rare disease phenomenon, and spreading the word on a cause that affects a relatively small group of people to the wider population at large. Improved access to existing medicines, at an honest cost, as well as stronger health policies and education around rare diseases, combined with increasing incentives  for focused R&D and drug development by pharma are all goals of the initiative. Last year's Rare Disease Day involved events in some 84 countries, and that's a pretty healthy level of participation. 

On that note, I will end this particular blog by sharing the video for this year's Rare Disease Day 2017, and wishing everyone involved their most successful event day yet!