Improving access to innovative medicines for rare diseases
Rare Disease Day marks an important occasion to raise awareness of rare diseases and the need for action to support people and families living with these conditions. In this blog, Rosie Lindup, Senior Policy and Public Affairs Manager, discusses some of the challenges which need to be addressed to improve access to rare disease treatments for patients in the NHS.
There are 3.5 million people in the UK living with a rare disease, and Rare Disease Day brings vital attention to the complex challenges faced by people living with rare diseases and their families. A challenge faced by many rare disease patients is a lack of effective treatment options, and despite advances in science increasing our ability to develop targeted treatments to tackle the root causes of diseases, 95% of rare diseases do not have an approved treatment.
The BIA’s Rare Disease Industry Group (RDIG) brings together companies developing treatments for rare diseases to advocate for improved patient access to medicines for rare conditions. In November 2023, the BIA RDIG published a report, Evaluating patient access to rare disease treatments, which assessed the progress made in improving access to rare disease treatments in the UK, and the challenges that remain.
Since then, we have seen some steps forward in improving access to treatments for rare diseases in England – a number of managed access agreements have been agreed through the Innovative Medicines Fund (IMF), the Innovative Licensing and Access Pathway (ILAP) has been refreshed to increase its impact, and a number of new medicines have been made available to patients in England, including treatments for Wolman disease and Von Hippel-Lindau disease. Cystic fibrosis medicines have also been approved and made available to patients following the end of a managed access period.
However, there is concern that things are not moving in the right direction. The EFPIA Patient W.A.I.T. Indicator presents IQVIA data on the availability of medicines across European countries. The latest data for non-oncology orphan medicines (page 35) showed a decline in the rate of availability of non-oncology orphan medicines in England from 59% to 47%, ranking eighth behind countries including Germany, France and Spain. Moreover, a 2023 survey by the BIA and ABPI of member companies engaged in the discovery, development, and commercialisation of treatments for rare diseases found that around half of approved rare disease products are not being reimbursed for patients in England.
Common challenges
The BIA/ABPI survey identified a number of common challenges experienced by companies bringing innovative medicines for rare disease to the UK. One of these challenges is that many medicines for rare diseases are assessed via NICE’s Single Technology Appraisal (STA) process, rather than the Highly Specialised Technologies (HST) programme, which is used to assess treatments for ultra-rare diseases which meet specific entry criteria. There is a significant gap between STA and HST with regard to the cost-effectiveness thresholds used, the evidence considered, and the amount of uncertainty accepted, contributing to a lower rate of approval for rare disease medicines in STA versus HST.
The entry criteria for HST are highly selective, meaning only a small number of medicines are successfully routed through. NICE recently consulted on changes to its entry criteria for HST which aimed to improve the clarity of the criteria to enhance the consistency and predictability of routing decisions. However, we are concerned that the proposed changes would make the criteria significantly more restrictive and would therefore reduce the number of medicines routed to HST. If implemented, these changes could make it even harder for rare disease medicines to be launched in the UK. In our response to the consultation, we urged NICE to ensure that the criteria align with the stated aims of HST to “encourage research on, and innovation for, ultra-rare diseases when there are challenges in generating an evidence base that is robust enough to bring the product to market” and “secure fairer and more equitable treatment access for very small populations with ultra-rare diseases”.
There are also concerns that challenges in the commercial access environment are exacerbating difficulties faced by rare disease medicine developers, including the impact of the higher than expected Voluntary Pricing and Access Agreement (VPAG) payment rate for 2025.
Opportunities for 2025
As we look ahead, there are a number of important opportunities to drive improvements to the access environment for rare disease medicines in the UK.
The BIA is engaging with the Government on the development of the Life Sciences Sector Plan and the 10 Year Health Plan, both of which are considering how to improve the adoption of innovation in the NHS in order to improve patient outcomes. As part of this, there is a need to consider the full value of innovative medicines to patients, families, carers and the UK economy. The impacts of rare conditions are significant, and further work is needed to improve understanding of these wider socioeconomic burdens and how they are measured and valued within value assessments. For example, the impact of rare diseases on carers has been highlighted as an important issue in a number of recent and ongoing appraisals including for treatments for Duchenne muscular dystrophy and Niemann-Pick disease.
We are also supporting calls to continue the work of the UK Rare Disease Framework beyond the end of its current remit in January 2026. Since it was introduced in 2021, the five-year Framework has played a crucial role in driving action, accountability and coordination on rare diseases across the four nations and between stakeholders. It is clear that there is more work to be done to improve the lives of people affected by rare conditions, including ensuring that patients can benefit from burgeoning scientific developments in advanced therapies. The UK Government is supporting this work through initiatives including Medical Research Council (MRC)’s new Centres of Research Excellence for gene therapies and the Rare Disease Research UK Platform, which was launched in 2023 with funding from the MRC and NIHR. At the BIA, we have a number of members developing promising new technologies and treatments which have the potential to transform care for patient with rare diseases. The renewal of Framework provides an opportunity to set new ambitions for beyond 2026 which will help to make this potential a reality.
