• ABPI Website
  • Media
  • Innovative medicines can bring hope to people with rare diseases – let’s get them to patients

Innovative medicines can bring hope to people with rare diseases – let’s get them to patients

From Paul Catchpole, Director of Value and Access Policy at the ABPI 

Today’s publication of England’s Action Plan for Rare Diseases contains important commitments to ensure that people with rare diseases get faster diagnosis, better care and timelier access to the treatments they desperately need.

At the ABPI, we will be working to ensure the England plan delivers for patients, and that plans are also created and delivered for Scotland, Wales and Northern Ireland. Patients from all across the UK must benefit.

Patients with the rarest conditions can face challenges at every turn; from receiving a correct and early diagnosis and accessing NHS services to receiving the appropriate – or any - treatment option.

We know this is a source of real frustration for people living with rare diseases and our industry works every day to try and improve this situation for patients and their families. 

And there is optimism: Many new medicines being developed have the promise to be genuinely life-changing.

Nearly 40% of the medicines now in development are for rare or very rare conditions, including many cell and gene therapies which are personalised to individual patients.

This means that more work needs to be done to prepare for a bigger pipeline of these medicines.

These game changing therapies are often targeted for the youngest children, with debilitating genetic conditions.

Over the past few years, we have seen CAR-T therapies made available to patients through the NHS.  These treatments allow us to modify the T-cells in patients’ blood to fight cancer cells in cases where all other treatments have been unsuccessful. This is helping treat and sometimes cure patients with rare cancers. We need to ensure access to these important therapies is sustained and this innovation in other cancers and conditions is made available to patients.

As the science evolves, the government, NHS and the pharmaceutical industry need to work together to make sure the systems are in place to get the next generation of medicines to patients.

To do this, the system needs to be truly joined up and fit for purpose.

We must prevent undue delays in getting a diagnosis. When people are diagnosed, and treatment is available, the system must work quickly to help them get it regardless of where they live.

The Early Access to Medicines Scheme (EAMS), the Innovative Medicines Fund, Accelerated Access Collaborative and Innovative Licensing and Access Pathway all hold the potential to improve the situation for patients with rare and very rare conditions - as well as those for more common conditions.

The recognition in the Action Plan that these individual initiatives need to be better aligned and coordinated is welcomed. This must be done through collaboration with industry as a key partner if we are to truly achieve a coherent and sustainable end to end system.

Innovative Medicines Fund (IMF)

The IMF was created to fast-track promising new medicines, including those for rare diseases. It extends the Cancer Drug Fund model which helped more cancer patients get quicker access to treatments. However, we can learn from the Cancer Drugs Fund. There is a need for more flexibility on balancing risk when deciding which medicines should go into the fund. The current bar is too high for many medicines the fund was intended to support, such as those for rare conditions and smaller patient populations.

Accelerating medicines through the system

The Accelerated Access Collaborative, EAMS and Innovative Licensing and Access Pathway are all mechanisms designed to fast-track promising medicines safely through the approval process so that they get to patients who could benefit as soon as possible.

The opportunity of these initiatives needs to be realised for rare diseases, as well as more common ones.

NICE Methods and Processes

NICE is the body charged with making sure that medicines in the UK are clinically and cost-effective for the NHS. It has recently finished a review of the methods and processes it uses to do that, and there are some changes which should provide much needed flexibility and pragmatism in the system.

However, there are significant missed opportunities, which still need to be worked on. And there remains significant challenges for rare disease medicines.

For example, there needs to be further work on health inequalities, including considering how NICE can better support rare disease medicines because of the inequity in access to treatments people with rare diseases continue to face.

The revision of the Highly Specialised Technologies (HST) selection criteria risks preventing some medicines treating very rare diseases from being able to enter this evaluation programme. The impact of this change to the Highly Specialised Technologies criteria needs to be closely monitored with further adjustments made if the medicines needing this programme cannot enter it.

We continue to work with NICE to address these areas.

The journey of a medicine from scientific breakthrough to treating patients can be a long and uncertain one. We need to make sure the system works better to bring hope to more people with rare conditions.

  • Rare diseases

Last modified: 20 September 2023

Last reviewed: 20 September 2023