Duchenne muscular dystrophy (DMD)is a life-limiting muscle-wasting condition. It primarily affects boys and causes muscles to weaken and waste over time, with most of those affected needing to use a wheelchair by the age of 12. DMD also causes other severe health problems to the heart and breathing muscles.

A group of charities is urging for the approval of a drug that can treat an underlying genetic cause of DMD – The drug Translarna can help treat cases of a version of Duchenne that is caused by nonsense mutations.

Muscular Dystrophy UK, Action Duchenne, Duchenne Family Support Group and Duchenne UK took their case before the Scottish Medicines Consortium (SMC) to represent patients who could benefit from Translarna and to seek its approval for use on the NHS in Scotland.

In its joint submission to the SMC, the charities outlined evidence from a survey conducted earlier this year. They provided evidence that highlights clear improvements to quality of life reported by those receiving the drug. Significantly, many families of children receiving Translarna say they retained the ability to walk for longer than expected, and that this gave their child greater independence to complete daily tasks and take part in activities with friends. Families also reported huge behaviour improvements at school and home, as well as positive mental health outcomes.

If SMC approves the submission, Translarna would be the first treatment routinely available through the NHS in Scotland that addresses an underlying genetic cause of Duchenne muscular dystrophy.

One parent who took part in the survey, and whose thoughts were included as evidence in the submission, explained:

“For our son knowing that he has a medication to help his muscles is a massive boost to him. We believe that every time we receive our Translarna it lifts his spirits in this fight. We never for a moment take for granted how lucky we are to be receiving this drug and feel it’s something in our corner as we face this battle head on.”

If approved, Translarna would be given in addition to the current standard treatments on the NHS in Scotland.

A spokesperson on behalf of the four charities said:

“Every day is a race against time to slow down Duchenne muscular dystrophy, a progressive condition that robs children of their ability to walk and their independence.

“Muscular Dystrophy UK, Action Duchenne, Duchenne Family Support Group and Duchenne UK are pleased to have represented the voices of patients in our joint submission to the SMC.

“We believe our submission highlights both the physical and mental health benefits of Translarna, a drug that has the potential to improve lives for so many families living with Duchenne. We very much look forward to hearing the SMC committee’s thoughts on our submission.”

This is the second time a submission has been made to the SMC to approve Translarna, following an earlier rejection in 2016. You can read more about this here. Translarna was subsequently made available by Health Boards on an individual patient treatment request basis. Following the submission,2nd of March, a meeting will take place with the SMC committee. The committee will report back four weeks after the meeting in terms of next steps, at which point the four charities will respond accordingly.