What should be in the UK plan for rare diseases to support research

Posted on May 28, 2012 by


The consultation on what the UK’s plan for rare diseases should look like closed on Friday. In 2009-10, AMRC members invested £6.7 million to support research into rare diseases. The plan will include steps to support research like this so we’ve responded to the consultation to flag up where the plan can take action to support research into rare diseases and ensure findings are taken up quickly to improve treatment for patients.


Rare diseases affect a lot of people – 1 in 17 people at some point in their life. The UK signed up to a Council of the European Union communication on rare diseases back in 2009 . This committed the UK to developing a national strategy for rare diseases by the end of 2013.

Those with rare diseases and charities and organisations representing them teamed up to create Rare Disease UK – a national alliance which set out to campaign for the health departments across the UK to develop this strategy. AMRC are part of Rare Disease UK. They established working groups of experts and produced a report called Improving Lives, Optimising Resources: A Vision for the UK Rare Disease Strategy recommending what a strategy should look like if it is going to be comprehensive and effective, and accurately reflect the needs of the rare disease community.

Rare Disease UK has also worked closely with the Department of Health and devolved parliaments to champion the need for the strategy and what it should cover.

The Department of Health launched their proposals for a UK plan for rare diseases aimed at improving the services, treatment and support that people with rare disease receive on 29 February. They are now consulting on the contents of the plan – the consultation closes on 25 May.

There has been some concern over the contents of the proposed plan, whether it goes far enough and wanting more detail on how some of the ideas will be implemented. Rare Disease UK are encouraging as many people as possible to respond to the consultation with their views.

What have we said?

The proposed plan had a fairly short section on research, a couple of pages outlining some of the research underway in the UK and how the government is taking steps to support it including work to streamline the steps that need to be taken to get a research project off the ground. It also outlines how the UK is collaborating on a European and international scale to support research. It poses a question about how to ensure research is rapidly transferred into practice.

We were concerned that this section was quite light on specific action that would be taken to support research into rare diseases. It is important to ensure the impact on research into rare diseases is taken into consideration as steps are taken to support research in the UK.

In particular we’ve flagged up:

The great research that is already underway in the UK – In 2009-10, AMRC members invested £6.7 million to support research into rare diseases. Many others also fund such research as they invest in broader conditions or fundamental scientific research which may assist the understanding of rare diseases and are investing in infrastructure to allow more to be conducted like the new Great Ormond Street Hospital Children’s Charity plan to build a centre for children’s rare disease research. The National Institute of Health Research (NIHR) – the research arm of the NHS – supports a considerable amount of this research in their centres and units.

But there is a need to take steps to make the most of this investment and attract more investment in research:

streamline regulation – by virtue of being rare, research into rare diseases often involves patients across a wide geographical area in order to recruit enough, meaning researchers need to get multiple permissions from multiple NHS sites. This process takes a long time. NIHR are already taking steps to speed up the process by introducing a 70 day target, but it may be necessary to take additional steps to ensure research into rare diseases isn’t held up.

transferring research into practice – it is important that research findings can be used to improve the treatments that patients get as quickly as possible. With the new research duty across the NHS introduced by the Health & Social Care Act 2012 and plans to improve the speed of uptake of new treatments across the NHS launched by Innovation Health and Wealth in December lots of work is afoot but it is important this works for rare disease too. Additional steps to raise awareness of rare diseases and flag sources of support and further information will be valuable. It will also be key to work with existing expert centres led by clinicians with experience in specific rare conditions and engaged directly with affected patients.

building coordination and collaboration – both within the UK and internationally. Research networks focused on specific disease areas help coordinate research and share expertise. Rare diseases currently fit within several research networks. It may be valuable to consider developing a network focused on rare diseases to support conversations between researchers and funders, and an exchange of knowledge and expertise. Creating a network working together could also form the basis of more international collaboration.

UK membership of international projects is important to underpin collaboration. Through NIHR we participate in the International Rare Disease Research Consortium which helps team up researchers and organisations investing in rare diseases, but we are not currently engaged with E-rare, a European project aimed at supporting research into rare diseases in Europe and globally.

consider more adaptive approaches to licensing – Randomised control trials are used to test how safe and effective new treatments are before they are licensed. But these present difficulties for rare diseases where there may not be enough patients able to trial new treatments to gather enough data for licensing. Adding to this, rare diseases are often life limiting, meaning there are few adult patients who can be involved in research. This means patients have to wait longer for new treatments, and also discourages investors from funding research when they know licensing and bringing the new drug to the market will be difficult. New licensing approaches, allowing earlier access to new treatments to small groups and collecting data on an ongoing basis as the treatment is rolled out may offer better models for licensing new treatments for rare diseases.

enabling access to patient data for research – patient records are a rich source of data for health research and lots of initiatives are underway to explore how we can improve safe and secure access to this data for research. This is important for rare diseases where registries gathering clinical information from all patients with a particular condition, or type of condition, are a vital research tool.

the value of patient’s voices in research to design better research and to drive new research collaborations. The plan recognise the role of patient groups  in driving research projects forward and we’ve included a great case study in our consultation response, of how the AKU Society here in the UK has built an international collaboration and secured EU funding to trial a promising new therapy. We’ve emphasised how important it is that the government works with patients throughout the development and implementation of the plan and the benefits of doing this, that patients can play a really powerful role in driving international collaborations, focusing the research agenda to bring the maximum healthcare benefits, and raising awareness of rare conditions.

What next?

Now the consultation has closed, the Department of Health will be pulling together all the responses to inform how they develop the plan. They will publish a summary of the responses here before or alongside any announcement on what the plan will look like.

Posted in: Policy