Routine funding recommended for Duchenne muscular dystrophy gene therapy ataluren

Today’s decision follows NICE’s commitment to re-evalutate ataluren and decide whether it should be available for routine funding on the NHS following a 6-year period during which it was available under a managed access agreement (MAA). This agreement, which ends in January 2023, meant that people could have the treatment while more data to resolve issues about its effectiveness was collected. Around 60 children have been able to have ataluren under this arrangement.  

One of a group of muscular dystrophies, Duchenne muscular dystrophy is a severe, progressive muscle-wasting genetic condition caused by the lack of a protein called dystrophin. It leads to gradual loss of muscle function with children often needing to use a wheelchair by early adolescence and eventually needing help to breathe. 

There are between 60 and 70 children, mostly boys, born with DMD in England each year and in around 6 – 9 children (13%) it is caused by a ‘nonsense mutation’.

Costing around £220,000 per patient per year at its list price (there is a confidential discount to the price of ataluren agreed with NHS England which would have applied if NICE had recommended it), ataluren is the first licensed treatment for DMD that addresses the loss of dystrophin. It works by allowing the body to read over the mutation in the DNA and continue to produce dystrophin.  

The data collected as part of the MAA, together with new real-world evidence (evidence collected outside clinical trials) on ataluren and feedback from clinicians and people with the condition and their carergivers has been reviewed for this draft guidance.  

It suggests that ataluren is likely to slow down how quickly the disease gets worse and delay the time at which the ability to walk is lost. Evidence for improvements in later stages of the disease and improved survival with ataluren is limited and highly uncertain. However, the committee agreed that ataluren may also improve outcomes, such as preventing scoliosis and maintaining upper body strength, once the ability to walk has been lost.  

Taking all the evidence into account, together with an improved commercial arrangement agreed with the company after the second committee meeting, the cost-effectiveness estimates for ataluren are within the range that NICE usually considers acceptable for highly specialised technologies.