This year, Rare Disease Day feels more important than ever before. With so much focus on the global pandemic and other high-profile disease areas, it offers a critical opportunity to shine a light on and give a platform to people and families affected by diseases that most of us have never heard of.
A rare disease is defined as a life-threatening or chronically debilitating condition affecting 1 person or fewer in every 2,000. There are over 7,000 rare diseases in the UK, with 1 in 17 people being affected at some point in their lifetime. When you add all of this together, 3.5 million people in the UK have a rare disease, and behind each person with a rare condition is a support network of family and friends who are also greatly affected.
After many years of working in the rare disease space, I am all too familiar with the devastating impact some of these conditions can have, particularly on younger people and their families. Almost 80% of rare diseases are genetic, and for many years researchers have been exploring treatment options with the aim of addressing their underlying genetic causes. In the last few decades, the hard work of these researchers has led to the development of new and potentially transformative treatments, such as gene therapy, that target the root cause of genetic disease and have the potential to confer lifelong benefits for some.
Policy changes needed to get treatments to patients
Gene therapies offer the potential for a paradigm shift away from chronic disease management and have the potential to fundamentally change our approach to the treatment of rare diseases. However, in order to make this a reality and ensure that patients have access to these treatments once they have gained regulatory approval, policy changes are urgently needed.
I have seen some encouraging signs that change is underway, with announcements on the new Innovative Licensing and Approval Pathway (ILAP) and the NICE methodology and process consultation underway, but how quickly these will come to fruition and lead to meaningful choices being available to patients is unclear.
NICE released a consultation document last year, which reviewed its methods for evaluating the cost-effectiveness of innovative medicines. Within that review it was encouraging to see a particular focus on advanced therapy medicinal products (ATMPs) of which gene therapies are a part as significant changes to the health technology appraisal system are needed to support this next wave of innovation.
The UK Rare Diseases Framework
I was pleased to see that this Framework, recently published, builds on the commitments made in the UK Strategy for Rare Diseases, and with four key priorities identified for the next 5 years which are all critical for the rare disease community.
A key priority is the effective diagnosis of people with rare diseases through early screening and increased research into previously unrecognised conditions, to ensure an accurate diagnosis and the potential for effective, tailored treatment options. The framework also prioritises increasing awareness of rare diseases among healthcare professionals, and better coordination of care and use of technology to enable remote access to specialists.
However, the most important priority in the framework in my view is the commitment to improving access to specialist care and treatments. This shows that the government recognises the need for new therapies and the potential they have to provide transformative solutions. We look forward to working with the Governments of all four UK nations to remove barriers for the development and access to this next wave of innovative medicines.
Making the UK a world-leader in rare disease therapies
Today the UK could not be better positioned to provide transformative solutions for people with rare diseases, as we strive to become a leader in gene and cell therapy technologies. There are now over 120 clinical trials testing these therapies in the UK, 12% of the global total, with nine therapies currently licensed for use, and counting. Now is the time to become a true leader in their getting them to all patients that need them quickly.
But the research and development of these new therapies is just the beginning. It is vitally important that people affected by rare diseases, advocates and the pharmaceutical industry continue working with policymakers to ensure that the potential of cell and gene therapies can now become a reality for people across the UK.
This Rare Disease Day we need to demand that every person in the UK with a rare condition has access to the best possible treatment options, to enable them to live their lives to the fullest. I hope the government will use key policy opportunities such as changes to NICE’s methods and processes for the benefit of people with rare diseases and their families in the months and years to come.
This Rare Disease Day we need to demand that every person in the UK with a rare condition has access to the best possible treatment options, to enable them to live their lives to the fullest, and I hope the government will support changes to NICE’s methods and processes for the benefit of people with rare diseases and their families in the months and years to come.
Nicola Redfern, General Manager of bluebird bio in the UK