What do you think will be the biggest hurdle to the development of treatments for rare diseases in the next year?
Every rare disease is different and faces different challenges when it comes to drug development. With roughly 7,000 rare diseases, it is difficult to generalize. For some, the main challenge is the science, as in the case of poorly understood rare diseases with unknown cause or for which there are not good or available animal models. For others, the main challenge is the business, and patients and researchers need to build the business case to attract industry to that rare disease as a potential drug indication. That’s why it is so important to diagnose the challenges that each rare disease is facing so that efforts can be targeted to filling those disease-specific blanks.
That said, there are some global challenges that affect all rare diseases regardless of how developed a particular field is. These are probably those related to payers, regulators and funding. Payers are concerned about the high cost of treatments for a few while those resources could be spend in more frequent diseases, in particular with national economies under pressure to optimize resources. On the regulatory side, making sure new drugs reach their target patients faster without compromising safety is a big challenge that all rare diseases face, and the funding gap between discovery research and late-stage development is not restricted to large indications.
Developing therapies for rare diseases is still quite recent in the history of drug development and all stakeholders are working on developing a better system that can help develop more drugs for more patients faster. The next year should actually see us move in that direction of solving some of these hurdles. For example both the EMA and the FDA have recently started initiatives specifically targeted towards accelerating the approval of orphan drugs, such as the EMA adaptive licensing pilot project. Also, forecasts that worldwide orphan drug sales will double by 2018 and that return on investment for orphan drugs will be higher than that nor non-orphan drugs will help drive industry investment into orphan drug development. Overall I think these remain the main hurdles to developing orphan drugs, and, while payers and regulators are making progress towards embracing the development and approval of orphan drugs, funding will remain a big challenge, in particular during the so called “valley of death”. The arrival of disruptive funding models such us partnerships with patient organizations and crowdfunding is likely to play a major role in filling this funding gap and we will probably see more of these during the next few years.
What do you predict will be the biggest thing to shake up the sector this year?
There was one day at the beginning of 2015 when all of us in the rare disease community realized things would never be quite the same again for the sector. During his State of the Union address, President Barack Obama made developing treatments tailored to a patient’s individual genes a priority, moving away from a one-drug-fits-all approach. “Precision medicine” might as well just be another term for “rare diseases”. In fact when we look into their biology, many common diseases are not one disease, but many diseases. When a drug is developed to target some of those specific pathways, large indications can be broken down into smaller –orphan– indications. As a result, efforts towards precision medicine are also efforts towards “orphanization” of diseases. Obama’s speech, supported by the recent advances in human genetics, has pretty much brought rare diseases to the spotlight and will no doubt come with a series of initiatives from which the entire field will benefit. I am very optimistic. 2015 could not have started any better.
How do you feel the relationship between industry/academics and patient advocacy groups will develop?
At the Dravet Syndrome Foundation we talk about “impatient patients” to explain what patient advocacy groups are becoming. We are entering a new model for drug development, in particular in rare diseases, where patients and patient advocates play an important role in the development of new drugs for their diseases, not only as funders but also as active collaborators and even principal investigators.
The patient as a partner is a new concept. I recently read a report from the Innovative Medicines Initiative (IMI) where they surveyed their funded consortia about whether they included patient organizations as partners or not and asked them about the reasons why. As a patient advocate I was both surprised and horrified to see how some consortia that had as their main mission to develop new drugs for particular diseases had not engaged any patient representative because they were “not yet in clinical trials”, considering patients to be mere research subjects.
I think we are only starting this paradigm shift from subject to partner and will need more time before scientists and funding agencies embrace the change. In the mean time there are fantastic role models with great success stories out there such as the Parent Project Muscular Dystrophy and the Cystic Fibrosis Foundation that show how in the future orphan drug development will be driven by collaborations between academia, industry and “impatient patients”.
What impact has the ALS Ice Bucket Challenge had on awareness of the rare disease sector and for your organisation directly?
The ALS Ice Bucket Challenge was such a great social experiment! With all of the media attention and celebrities, the Challenge helped get the word out there not only about ALS but also about how anyone can help a rare disease and how it only takes a small donation to a patient organization to make a difference. In a way it sent the message that helping find a cure for a rare disease is not just limited to those affected by the disease and the research/industry community around it; instead, it empowered the general public.
At some point during the Challenge participants started donating to other rare disease charities closer to them. This included our own organization so last year we had our own small version of the Challenge. Overall I think that, as crowdfunding starts becoming more common and powerful for funding research on rare diseases, the ALS Ice Bucket Challenge will serve as an example for how to design successful campaigns.
What are your plans for Rare Disease Day 2015?
This is the second year that we have a world Dravet Syndrome Awareness Day (June 23rd). Because of that, we have chosen to keep our disease-specific activities for that day and we will join other rare disease patient groups this week in events organized by the Spanish Federation for Rare Diseases (FEDER) around rare disease awareness and the participation of patient groups in research.
The World Orphan Drug Congress is taking place in Geneva on 12-13 November; we hope you can join us! Visit the website for more details.