Why rare disease day is so important – Julie Matthews, CEO at TMC Pharma
February 28, 2024 – Drug Discovery –
Because each individual rare or orphan disease has such a low public profile, advocacy for research funding depends on a collective effort through channels such as Rare Disease Day.
Whilst individually uncommon, rare diseases impact hundreds of millions of patients, their families and loved ones every year. Having worked with countless people whose lives have been touched by a rare or orphan disorder during my career, I can testify first-hand to the enormous significance of implementing top-quality research in these conditions.
The heartbreak for a person living with a life-limiting rare disease is that they often feel neglected — by the system and by the clinical research industry itself. As such, Rare Disease Day presents an opportunity for those of us with expertise in developing orphan drugs to become part of the solution by explaining the importance of securing funding for the specialist clinical trials needed in this field.
All clinical trials face their own challenges, and no two drug programmes are the same — just as no two patients are the same. However, it’s fair to say that rare and orphan disease studies present a unique set of hurdles for biotech and pharmaceutical companies to contend with.
For example, trial design has to overcome obstacles such as the rarity of suitable patients to enrol and the fact that they may be widely dispersed across the globe — making it difficult to engage participants, navigate international ethical or regulatory requirements and measure meaningful clinical endpoints.
What’s more, funding has long provided a stumbling block that prevents companies from bringing rare disease treatments to market quickly and efficiently. Though there have been several positive developments in this area thanks to initiatives such as the UK Rare Disease Research Platform, established by the Medical Research Council and the National Institute for Health and Care Research in 2023, we still have some way to go to tackle long-standing investment barriers.
Still, despite these challenges, I am incredibly optimistic about the landscape of rare disease clinical research. We are getting there.
We are seeing an increasing understanding of these issues by stakeholders, and a corresponding increase in orphan drug development. Growing awareness of these conditions and their impacts is driving change within the clinical research space — prompting medical product developers to pursue bespoke approaches to the development cycle for rare disease therapeutics.
By fostering a culture of collaboration across the industry, we can ensure under-represented patient groups feel looked after whilst addressing the key research questions for the world’s most uncommon medical conditions — championing new treatment options that can (and do) make a real and measurable difference.’
