PJ view: Access to rare disease treatment should not be a rarity

The government’s action plan for rare diseases, published in 2025, states that “currently only around 5% of rare diseases have an effective and approved treatment”. 

This is a shocking statistic, but what is perhaps more shocking is that the same figure was cited in an opinion piece published in The Pharmaceutical Journal in 2017, calling for updated drug appraisal methods for rare diseases.

It is disheartening to think we’re in a similar position to almost ten years ago, especially as even though the diseases are termed ‘rare’, the Medicines and Healthcare products Regulatory Agency (MHRA) estimates that around 3.5 million people — or 1 in 17 people —  in the UK have one.  

It also states that the average time to diagnosis of a rare disease is 5.6 years and that 30% of affected children die before the age of five years.

Surely these data are enough to propel action for patients with what can be life-threatening diseases, but we must also acknowledge that for progress to be made, significant work needs to be done to address the underlying issues. Low patient numbers, coupled with red tape, can make it incredibly hard to get treatments into clinical trials, let alone onto the market. 

This month, The Pharmaceutical Journal published a feature on whether a cure is on the horizon for epidermolysis bullosa (EB), a group of rare genetic skin disorders affecting around 5,000 people in the UK, which cause patients to have extremely fragile skin that blisters and tears from even the slightest touch. 

Trials are currently underway for management options, including a novel trial that will test three drugs at any one time. Sagair Hussain, director of research at the EB charity DEBRA, told The Pharmaceutical Journal that the reason for running a multi-drug trial is “because EB is a rare condition, we can’t get enough patients to do more trials”.

Sadly, there is also the commercial benefit that companies consider. As Hussain points out: “From a company’s point of view, patient numbers are so small that, commercially, it makes no sense to submit another licence for their drug because the cost of submitting the licence, plus the cost of post-authorisation safety studies, outweighs the commercial benefit.”

There is hope, however. In November 2025, the MHRA announced that it was “overhauling the rulebook” by proposing to introduce a new licensing pathway to speed up approvals for rare disease therapies, including those with limited clinical data. It also said that gene-based therapies, such as CRISPR and mRNA, for “relatively common rare diseases that affect several thousand people in the UK” can be tailored to target specific patient subgroups.

In December 2025, the National Institute for Health and Care Excellence (NICE) announced it was increasing its cost-effectiveness thresholds for the first time since it was established in 1999. The thresholds will increase from between £20,000 and £30,000 per quality adjusted life year (QALY) gained by using a new drug, to between £25,000 and £35,000 per QALY from April 2026.

The change means an additional three to five medicines could be approved for use on the NHS each year, which may include “breakthrough cancer treatments, therapies for rare diseases and innovative approaches to conditions that have long been difficult to treat”, NICE said.

Rare diseases are also mentioned in the government’s ten-year plan for the NHS within plans for a genomics population health service. Under the service, all babies will undergo genomic testing at birth, which the government says will “eliminate the diagnostic odyssey” for some patients with rare diseases and could reduce the time it takes to receive a diagnosis “to three months in some instances”. 

These are all steps in the right direction for patients who so desperately deserve treatments  — if they come to fruition. Let’s hope we are not making the same call in another ten years. PJ