It is crucial that we develop a bespoke process to evaluate ‘orphan’ medicines if we are to eradicate inequality in the system, says Sebastian Stachowiak

One in 17 people will be affected by a rare disease at some point in their lives. These are often debilitating and life-threatening conditions, primarily affecting children. While just 5 per cent of rare diseases have a licensed treatment option, thanks to a combination of European legislation introduced in 2000 and the ongoing efforts of innovators, an increasing number of rare disease medicines are being licensed each year.



However, achieving routine access to these medicines in England is becoming increasingly difficult. Analysis undertaken by Office of Health Economics Consulting, commissioned by Shire, has shown that England falls behind European counterparts in the speed, and breadth, of reimbursement of rare disease medicines.

Of the orphan medicines (those used to treat rare diseases) licensed by the EMA between 2001 and 2016, 47 per cent are reimbursed for routine use in England, compared to 81 per cent in France, and 93 per cent in Germany.

When a medicine is approved in England, the average wait for a decision from receiving EMA backing is 28 months, compared to 21 months in France, and almost immediate use in Germany. This is clearly not good enough for rare disease patients and their families, who are already facing overwhelming challenges.

Absolutely critical

These findings were recently launched in our report, Equity and Access, at Shire’s rare disease summit, which brought together system leaders to discuss how we might collectively address these issues.

As outlined in our report, there are various reasons that orphan medicines cannot be treated like medicines used to treat more common conditions. Small and highly diverse patient populations lead to more limited clinical trial data available, and standard utility measures are inappropriate for these populations. Consequentially, the stark inequalities outlined above are caused when orphan medicines are evaluated by assessment methods designed for more common conditions, such as the NICE single technology appraisal, despite the fundamental differences in their nature.

It is absolutely critical that the NHS, patient groups, industry and wider stakeholders’ partner together to develop a bespoke, fit for purpose process to evaluate orphan medicines

Most orphan medicines do not qualify for the NICE highly specialised technology (HST) assessment as they marginally exceed patient population numbers or because they are treated in too many centres. However, due to the recent cost-led restrictive reforms of this process, even medicines assessed through this process are unlikely to reach patients in the future.

As such, as outlined in Equity and Access, it is absolutely critical that the NHS, patient groups, industry and wider stakeholders’ partner together to develop a bespoke, fit for purpose process to evaluate orphan medicines. The establishment of a new Strategic Commercial Unit in NHS England in tandem with the overdue commitment to produce an implementation plan for the UK Strategy for Rare Diseases provides an opportunity to achieve this.

Should we as a rare disease community fail to make progress in this we risk not being able to meet the ambition of the rare disease strategy to ensure that “no one gets left behind just because they have a rare disease”.

Sebastian Stachowiak is general manager of Shire UK