The Scottish Medicines Consortium (SMC) has completed a reassessment of Translarna (ataluren) and has decided not to recommend it for routine use within NHS Scotland. Translarna is a treatment for Duchenne muscular dystrophy (DMD) caused by a specific type of genetic change called a nonsense mutation. It is intended for ambulatory patients aged 2 years and older whose nonsense mutation has been confirmed through genetic testing.
What is a reassessment, and why was this decision reached?
The SMC periodically reviews treatments, particularly those evaluated under its ultra-orphan framework, which is designed for medicines that treat very rare conditions. Translarna was reassessed through this framework.
Gathering sufficient evidence about the effectiveness of a treatment, especially in rare conditions, can be difficult with evidence of real-world impact often being limited. The managed access to Translarna offered a route to gaining a clearer picture of the costs and benefits of this treatment for the Duchenne community.
In this reassessment, the company that makes the treatment (PTC Therapeutics) submits updated clinical and economic evidence for the SMC to consider alongside any new information that has emerged since the original review.
The SMC considered the newly updated evidence provided and decided it was not sufficient. As a result, the SMC committee found that the clinical and economic analysis presented was not robust enough to meet their acceptance criteria.
What does this mean for families in Scotland?
Translarna has been in limited use in Scotland for a small number of individuals whose Duchenne is caused by a nonsense mutation – which accounts for roughly 10-15% of all Duchenne cases – with no new nonsense mutation cases having been registered in Scotland in recent years.
However, for those families who are currently affected, we want to assure you this decision does not diminish the importance of your experience or your need for support.
What if I am already accessing Translarna?
Families who currently use Translarna will continue to have access to this treatment for as long as their clinician considers it appropriate.
The SMC decision will affect any future newly diagnosed families. However, all NHS boards have procedures in place to consider requests for the use of a medicine in an individual patient where a clinician believes this would be of benefit.
For families in England, Wales and Northern Ireland, Translarna remains available for routine use through the NHS. The devolved regions of the UK have their independent pathways for assessing and considering new and existing treatment access via the NHS. These independent pathways can lead to differing outcomes based on the same body of evidence. This will feel somewhat like a postcode lottery, and we recognise how frustrating and confusing that can feel for families unable to access a treatment based on their location in the UK.
Support
Action Duchenne is committed to advocating for access to treatments that have the potential to benefit the Duchenne community, where clinical evidence supports their use. We are reviewing the SMC’s published advice carefully and continue to be here to support families affected by this news, and will continue engaging with the evidence landscape as it develops.
If your family is directly affected by this decision, please do not hesitate to get in touch with us on 07535498506. We are here to help you understand what this means for your situation and to signpost you to the right support.
Contact us
If you have questions or need support, please reach out to the Action Duchenne team at support@actionduchenne.org or 07535 498506.
