The BIA Rare Disease Industry Group (RDIG) represents a group of innovative bioscience companies that specialise in treatments for rare and ultra-rare diseases. The RDIG is committed to developing recommendations that can pragmatically inform and improve the challenge of ensuring patient access to treatments for rare and ultra-rare conditions, sometimes referred to as orphan and ultra-orphan medicines.

In particular, following changes to the NICE Highly Specialised Technologies (HST) process in 2017, the RDIG wants to work with partners to achieve a fit for purpose evaluation process for ultra-orphan medicines to ensure patients with ultra-rare diseases have equal access to the most innovative medicines.

The BIA has long been a vocal advocate of the need to improve access to treatments for patients with rare and very rare diseases. In 2014, the BIA published the report Very Rare Diseases, Complex Issues, calling for a separate approach for evaluation and commissioning of ultra-orphan medicines. We also commissioned polling that demonstrated the extent of public and political support for equity of access for patients with rare and ultra-rare diseases.

The RDIG will now continue and build on the BIA’s previous work in this important area. If you would like further information please contact Rachael Stewart, Policy and Public Affairs Manager

What is a rare disease?

A rare disease is defined as one that affects less than 5 in 10,000 of the general population and an ultra-rare disease affects less than one patient per 50,000 of the European population. In the UK, it is estimated that 1 in 17 people – approximately 3.5 million people – may be affected by a rare disease at some point in their lives. The impact that rare diseases have on patients, their families, and society is profound, as many are severe, chronic and progressive, with high mortality rates. 

In England, there is no dedicated process to assess orphan medicines and uptake of these medicines is varied. According to the Office of Health Economics of the 143 orphan medicines that were available in the UK, only 68 of these medicines were reimbursed and made available to NHS patients in England. In contrast, 116 orphan medicines are reimbursed in France and 133 are reimbursed in Germany.