11 March 2014

Very rare diseases, complex issues: evaluating orphan and ultra-orphan drugs

Being rare is becoming increasingly common. As patient groups such as Rare Disease UK rightly point out, collectively rare diseases affect roughly 1 in 17 people at some point in their life (approximating around 3.5 million people in the UK).

The research and development of rare and very rare diseases (or orphan and ultra-orphan drugs) is therefore a critical undertaking. Ensuring patients can access those new medicines is no less so. Given the high costs of developing a drug, and the very small patient populations found within the UK for any one rare condition (in the order of 500 or less for ultra-orphan medicines), how do we ensure equitable patient access at a cost that is acceptable to the tax payer? These issues and others are discussed in the BioIndustry Association (BIA)'s report - "Very rare diseases, complex issues" - published today examining the future evaluation of ultra-orphan medicines in the UK. It comes at a critical time, with the National Institute of Health and Care Excellence (NICE) - which now has the remit for evaluating very rare diseases (or highly specialised technologies (HSTs)) - preparing for a full consultation on how the new framework should look. The report also builds upon the BIA's roundtable discussion of the same subject in the House of Commons, which involved a wide range of stakeholders.

The need for a separate evaluation procedure for HSTs has long been recognised and is a core theme of the report. The difficulty of applying NICE's standard assessment to a product for a very small patient population is challenging for a number of reasons, not least of which is the naturally small datasets that such decisions must be based upon. It therefore becomes important to consider a wider set of factors to determine access arrangements. While these may lead to higher costs per product, equitability of access for those with rare conditions to treatments that have shown clinical effectiveness should be a key concern. This approach would seem to have the support of Members of Parliament, as shown by independent research commissioned by the BIA and undertaken by YouGov which shows:

68% of MPs agree or strongly agree that access to treatments on the NHS for very rare diseases should be based on clinical need and not the NHS's ability to pay
63% of MPs disagree that there should be a maximum price per patient for treating people with very rare and complex diseases.

This recognition by policymakers of the unique characteristics of very rare diseases is welcome. Indeed in various parts of the world, including the EU, policymakers incentivise the research and development of rare diseases by industry. A number of BIA members, both large and small, are active in such endeavours seeking to bring effective and innovative medicines to patients. However, as the report points out, those incentives are undermined if patients are ultimately unable to access them. These complex issues need to be addressed through the consultation, and during the interim process there has been a great deal of positive engagement between NICE and the wide range of interested stakeholders. The difficulties remain however, as demonstrated by NICE's draft guidance issued recently regarding Alexion's eculizumab (Soliris) for patients with atypical haemolytic uraemic syndrome. This framework is important to get right not just for those with rare diseases but also because it provides a window into the world of a more personalised medicine approach to drug development. With an increasing number of products targeted towards specific genetic mutations affecting smaller and distinct patient populations, evaluating medicines with limited datasets to maximise patient access whilst seeking to maintain value may become more common.

Very rare diseases, complex issues: evaluating orphan and ultra-orphan drugs

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