What do you think will be the biggest hurdle to the development of treatments for rare diseases in the next year?
Natural History studies are still uncommon and usable databases are in their infancy including the funding of these studies.
There is still a significant lack of natural history data for many rare diseases (which is needed to design studies with the correct endpoints and to understand how the disease develops), which continues to be one of the major hurdles for development of treatments for rare diseases. Therefore, a continuation of initiatives of regulators to advance development by early interactions (e.g. EMA Adaptive Licensing Pilot ).
There are several groups (patient advocacy groups, pharmaceutical and biotech companies) that have collected data for specific diseases, but these data are not uniformly available to other groups. Sharing of information across groups is limited, and as more companies become involved in the space there may be a considerable overlap of data collected from the same patient in multiple sources. The data collection methods could vary dramatically, making it difficult to identify at a later time whether data across different databases are duplicative.
PIP requirements in EU currently do not make exceptions or special allowances for orphan drug designation. This may have an impact on timelines and funding (which can be difficult to obtain) for small biotech companies. This could result in delayed marketing for rare/orphan drugs in EU.
What do you predict will be the biggest thing to shake up the sector this year?
Recently, we have seen exciting new advanced therapies to emerge into the rare disease world (eg exon skipping) and this is expected continue to emerge further during this year and years to come. One of the most influential developments in Europe in the next 12 months will likely be the award of Horizon 2020 grants.
If breakthrough therapy designation and priority review vouchers live up to their potential.
There are a few companies who are working on methods to streamline data collection to understand the natural history of rare diseases. As more companies become involved in streamlined data collection methods, it may become easier for companies to access information critical to understanding the natural history of specific diseases. This could open opportunities for early drug development, particularly as the characterization of extremely rare diseases becomes publicly available.
How do you feel the relationship between industry/academics and patient advocacy groups will develop?
There is continuing need for all stakeholders to be involved in orphan drug development. The last years have clearly shown that the combined efforts of patient advocacy groups, experts and regulators have lowered the hurdles for development. Patient advocacy groups are however moving forward to be more involved as one of the main drivers for development (using crowdfunding, grants and other ways of financing). Companies and academic groups who actively engage with patient advocacy groups earlier in the research and development process will be better equipped to understand the nature of the disease and the therapeutic needs from the patient’s perspective. An engaged partnership between advocacy groups and industry/academics will enable drug development to more specifically meet the needs of the patient population.
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 had a positive effect on awareness for the rare disease sector, and most certainly for ALS specifically. For our organisation, it enables us to more easily convey the crucial message that rare diseases are individually uncommon, but as a whole very common. Since it has raised awareness of the community in general, regulatory agencies appear more cognizant of how difficult it can be for pharma/biotech companies to speak with patients regarding the challenges in the drug development process.
It has raised awareness of this particular disease, but not necessarily rare diseases overall (info from a recent client meeting at the FDA) companies receive calls daily from patients asking them where the money went – patients don’t realize the money doesn’t go directly to pharmaceutical companies per se.
What are your plans for Rare Disease Day 2015?
We will be participating in two fundraising events in the Netherlands (one for kids with muscular disorders and one for ALS) in the forthcoming months. We are also involved via industry networks to raise awareness at Rare Disease Day.
The World Orphan Drug Congress will be taking place in Geneva on 12-13 November; we hope you will join us! Visit the website for more details.