BIA launches report on rare disease medicines appraisal

The BioIndustry Association's Rare Disease Industry Group (RDIG) has today launchedA Rare Chance for Reform in collaboration with PwC, calling for action to ensure that patients are able to access innovative medicines for rare diseases.

3.5 million people in the UK will be affected by a rare disease at some point in their lifetime and 75% of rare diseases affect children. There are very high levels of unmet need for people with rare diseases and only 5% of these conditions have an approved treatment. However, thanks to significant advances in science and research, more treatments are becoming available for the first time.

The report identifies key areas where reform would remove barriers and ensure access to rare disease medicines, these include:

  • Address systemic issues to build a strong environment for access to orphan and ultra-orphan medicines
  • Accelerate access through a conditional access period
  • Increase sustainability in funding arrangements for orphan and ultra-orphan medicines
  • Evaluate orphan medicines and ultra-orphan medicines through a single rare disease pathway
  • Adopt a single process to ensure that all orphan and ultra-orphan medicines are assessed by a process that accounts for their unique challenges

NICE now needs to ensure that its appraisal processes are suitable for rare disease medicines and effectively reflect the value they provide to patients, the NHS and wider society.

The methods review being undertaken by NICE has gone a significant way towards making the appraisal process more effective and ensuring that many more patients with a range of conditions are able to access medicines. Despite this progress, barriers to rapid access to new medicines for people with rare disease remain.

Securing patient access to rare diseases face very specific issues, including small patient populations, relatively poor understanding of the epidemiology of these conditions, a significant diagnostic odyssey, the absence of a ‘standard of care’ to act as a benchmark and measuring the impact on carers.

There is broad public support for access to medicines for rare diseases based on clinical need even if that would entail higher costs. The value that the public and patients place on these kinds of medicines needs to be reflected in NICE’s processes.

Steve Bates OBE, Chief Executive of the Bioindustry Association said: "People living with rare and ultra-rare diseases have long faced significant levels of unmet need, with a large majority lacking any licensed treatment options. However, we now stand on the threshold of a new era as ground-breaking science is making treatments available to these patient communities for the first time. What patients need now is for the medicines appraisal process to be ready and able to properly value and assess treatments for rare diseases and support access.

“We have been encouraged by the progress made in the NICE methods review in a range of areas, particularly severity, but hope that NICE will look specifically at the impact of rarity in a future review. Rarity is a factor that has an especial impact on its own. Rare conditions are less understood by clinicians, with no-one else in the patient community isolation of individuals and families is far too common. The diagnostic journey can take many years, with costs of wrong treatments as a result of misdiagnosis. There can be no prospect of drug development without incentive, as the size of patient population will mean the disease is never prioritised for the investment needed for the required research and development because of the size of the potential market.

“Factoring in rarity is particularly important in a universal health system like the NHS, that is cradle to grave, able to balance health need and cost across a broad population and over lifetimes.  RDIG's recommendations set out a range of changes that will support faster and more effective patient access to medicines for rare diseases and we look forward to a future NICE review where they become a reality."

Brian Pomering, pharmaceutical and life science transformation partner at PwC, said: “The pharmaceutical industry has made significant progress in developing new innovations to treat these diseases, but this innovation comes at a cost. It is largely through incentives such as the EU Orphan Regulation and conditional marketing authorisation, which accelerates access to the market, that industry can achieve meaningful returns on their investment.

“Access to new and innovative treatments is often restricted through the reimbursement appraisal process. Early access to patients through rapid reimbursement is a real attraction for industry and how it prioritises investment and launches of new drugs. The pharmaceutical industry is a key pillar of the UK’s Industrial Strategy. Post Brexit, with the end of transition period looming, it is vital that the UK maintains its status as an attractive early launch market, and a place where innovation can thrive.”


Notes to Editors

  1. For further information please contact Jack Fellows, Communications and Media Manager at the BioIndustry Association at
  2. Orphan and ultra-orphan diseases are defined by the European Medicines Agency (EMA) as those with a prevalence of no more than 5 in 10,000 and 1 in 50,000 patients respectively.
  3. BIA polling shows that 72% of people agree that patients should have access to a treatment based on clinical need, even if this would be individually costly to the NHS because of the rarity of the disease; and 68% agree that the NHS should ensure patients with very rare diseases have the same access to treatment as patients with common diseases, even if it means savings have to be made elsewhere in the NHS. Please follow this link.


About BIA

Established over 25 years ago at the infancy of biotechnology, the BioIndustry Association (BIA) is the trade association for innovative life sciences in the UK. Our goal is to secure the UK's position as a global hub and as the best location for innovative research and commercialisation, enabling our world-leading research base to deliver healthcare solutions that can truly make a difference to people's lives.

About PwC

At PwC, our purpose is to build trust in society and solve important problems. We’re a network of firms in 157 countries with more than 276,000 people who are committed to delivering quality in assurance, advisory and tax services. Find out more and tell us what matters to you by visiting us at