The need for continued collaboration on rare diseases

There are 3.5 million people in the UK living with a rare disease, and Rare Disease Day provides a crucial opportunity to draw attention to the inequities faced by patients and their families. In this blog, Emily Klein, Policy and Public Affairs Executive, reflects on the BIA’s recent parliamentary reception held ahead of Rare Disease Day 2024.  

Today marks Rare Disease Day, a date which brings visibility to the unique challenges faced by people living with rare diseases, and provides a focal point for advocacy in this space. As this year is a leap year, Rare Disease Day falls on 29 February – the rarest day of all.  

People living with rare diseases often face complex challenges in navigating the healthcare system. From difficulties in receiving a diagnosis, limited treatment options, and lack of awareness among healthcare professionals, these hurdles can further exacerbate the already difficult circumstances experienced by patients and their families.

Improving access to new treatments

Advances in life sciences mean that we are now seeing more treatments being developed for rare diseases that offer life-changing and life-saving benefits to patients.

Innovative new treatments, such as cell and gene therapies, are delivering transformative outcomes for patients living with diseases such as spinal muscular atrophy (SMA) and metachromatic leukodystrophy (MLD). However, 95% of rare diseases have no licensed treatment options, and even where treatments do exist, securing access can be challenging.

The BIA is committed to supporting access to rare disease treatments through its Rare Disease Industry Group (RDIG). Since its inception in 2017, RDIG has worked collaboratively with stakeholders, including patient advocacy groups and policymakers, to develop recommendations to improve access to medicines for rare and ultra-rare conditions.

Keeping rare diseases on the political agenda

Last week, the BIA held a reception in the House of Commons to bring together policymakers, patient advocates and innovative life science companies to discuss the challenges and future opportunities in improving the lives of those affected by rare diseases. The event provided a great opportunity for the rare disease community to connect with MPs and peers, as well as with key stakeholders from NICE - National Institute for Health and Care Excellence and NHS England.

The reception began with an opening speech by Liz Twist MP, the host of the event, and a panel discussion chaired by Steve Bates OBE FMedSci, CEO of the BIA. The panellists – Sam Roberts, CEO of NICE, Emily Reuben OBE, CEO and Co-Founder of Duchenne UK, Sean Richardson, General Manager UK & Ireland at Alexion Pharmaceuticals, Inc., and Alastair Kent, Chair of the UK Rare Disease Forum – offered a wealth of insights and perspectives on both challenges and opportunities in supporting access to rare disease medicines. The discussion was informed by RDIG's latest report, published in November 2023, which assessed the progress that has been made in securing broader and faster access to rare disease medicines in the UK.

The panellists reflected on how much the UK rare disease community has grown in recent years, with an increased focus on the needs of rare disease patients among politicians, healthcare professionals and industry. Despite this, however, it is also clear that there is much more to be done to improve the lives of people living with rare diseases.

During the discussion, it was encouraging to hear about the success of Project HERCULES, particularly in delivering a new bespoke Quality of Life measure for Duchenne Muscular Dystrophy (DMD). This represents a promising stride towards developing more suitable approaches to modelling and capturing the impact of rare diseases on patients.  

The conversation also delved into the Medicines and Healthcare products Regulatory Agency’s new International Recognition Procedure, which aims to accelerate the regulatory pathway for new medicines. The panellists discussed how to ensure that earlier regulatory approvals result in faster access for NHS patients, including the need for strong alignment between the MHRA, NICE and NHS.

Looking ahead

The prevailing theme from the parliamentary event was one of opportunity, and it was clear that continued collaboration between stakeholders will be necessary to seize these opportunities.

There is a promising pipeline of novel treatments being developed by the life sciences industry that have the potential to transform the lives of patients with rare diseases.

Ensuring patients in the UK have timely access to these treatments on the NHS remains paramount.

The general election will provide new opportunities for change and the BIA will be engaging with all political parties over the coming months, with recommendations informed by our recent report.

We are looking forward to further engagement and collaboration with stakeholders to build on the momentum created at this event to deliver greater equity for people living with rare diseases.