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Rare Diseases 2020

Understanding challenges in the rare disease treatment pipeline will lead to better patient outcomes

Steve Bates OBE

Chief Executive, The BioIndustry Association (BIA)

People with rare diseases face immense challenges when it comes to diagnosis and treatment. One in 17 people in the UK will be affected by a rare disease at some point of their lives.


The UK is a world leader in several innovative therapies, and has globally leading, patient-led disease groups and research charities, expert clinicians and scientists. This comprehensive system makes the UK a great place to research and be treated for a rare disease.

Our vibrant biotech sector is already delivering medicines that are improving the lives of rare disease patients across the UK and the world, such as those with Batten’s disease and spinal muscular atrophy.

These treatments were the first of their kind, saving and enhancing the lives of thousands of people. But in entering this process, companies embark on a complex, risky, time-consuming and costly journey.

Our NHS is well suited as a health system to treat rare disease. Unlike other healthcare systems, Britons are secure in the knowledge that a diagnosis, however devastating, is highly unlikely to be bankrupting.

Often it can take up to 15 years and cost over £1 billion for a developer to take a medicine from initial research to the point it becomes available to patients

The private sector shoulders the risk

Often it can take up to 15 years and cost over £1 billion for a developer to take a medicine from initial research, to the point it becomes available to patients. This risk is carried by the private sector.

A medicine goes through several phases of testing and clinical trials to ensure that it safely and effectively treats the specific condition it needs to combat.

These regulatory processes are important and necessary to ensure patient safety; however, the failure rate can be sizeable, with the drug developer bearing the financial cost.

If a therapy gets regulatory approval, those treating small patient populations then face additional challenges in the form of more processes.

The National Institute for Health and Care Excellence (NICE) evaluates medicines for the NHS with a 20-year-old process to assess the cost effectiveness of medicines using technical health economic criteria.

This assessment is alien to the value-for-money assessment used in other parts of government, often excluding what is really valuable to patients and their families and what the impact will be on wider society.

Access to medicines must improve

2016 data shows only 68 of 143 orphan medicines with a marketing authorisation are centrally approved for patient use and paid for by the NHS.

One of the best kept secrets in the UK is that the drugs industry has agreed a total cap on the new branded drug expenditure in the NHS for the next three years so, if drug expenditure goes above agreed levels, the industry pays the Government for the drugs the NHS prescribes.

Even despite this budget guarantee, England is far behind countries like Germany, France, and Italy in rare disease medicine access.

Many of the biotech companies working on rare diseases are small- and medium-sized enterprises (SMEs) with only a few medicines in their pipeline.

The companies’ continued existence and role in delivering new, potentially life changing medicines is dependent on their medicines reaching patients and being reimbursed through the NHS.

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