Hot topic: Access to rare disease medicines – a fraught issue

Access to rare disease medicines will likely always be a fraught issue as healthcare systems seek to balance providing equitable patient care against their finite budgets. 

Even so-called “universal” healthcare systems, such as the NHS, are often unable to provide expensive rare disease treatments to the patients that need them because of costs and the challenges of administering them. 

A recent and heart-breaking example emerged in Northern Ireland, where a 12 year-old boy and his family are fighting for access to a drug that slows the onset of Duchenne Muscular Dystrophy (DMD). 

According to news reports, the Belfast Trust is unable to provide Givinostat because it does not have the staffing available to safely give the treatment to Alfie Pentony, from Newry, County Down. 

It’s the kind of dilemma that’s unlikely to go away. In this case, the healthcare system does not have the finances to provide specialist staff to administer the drug. 

There’s also the ongoing issue with the NHS being unwilling to pay a premium for novel medicines, which has limited access to rare disease drugs in the past. 

This was epitomized by the long-running and often bitter dispute with Vertex over access to drugs for cystic fibrosis, which was finally resolved in 2024 when three of the four UK nations struck a long term deal with the manufacturer after years of wrangling. 

This inequality in access will continue, unless both developers and healthcare systems find creative ways to resolve this issue.