2 March 2021

Together with Muscular Dystrophy UK, Action Duchenne and Duchenne Family Support Group, Duchenne UK are asking the SMC to approve a drug called Translarna. It is the first drug that can help treat cases of an underlying cause of Duchenne muscular dystrophy.

A group of charities is urging for the approval of a drug that can treat an underlying genetic cause of a life-limiting muscle-wasting condition.

Duchenne muscular dystrophy (DMD) 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. The life-limiting condition also causes other severe health problems to the heart and breathing muscles.

The drug Translarna, however, can help treat cases of a version of DMD that is caused by nonsense mutations.

Today (Tuesday 2nd March), Muscular Dystrophy UK, Action Duchenne, Duchenne Family Support Group and Duchenne UK are appearing before the Scottish Medical 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 ahead of today’s meeting, 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.”


NOTES FOR EDITORS

For more information on Muscular Dystrophy UK please contact:

Alice Cachia - Senior Press Officer

07771 374 839

[email protected]

For more information on Action Duchenne please contact:

Neil Bennett – Head of Research

020 7250 8240 

For more information on Duchenne Family Support Group please contact:

[email protected]

0800 121 4518

For more information on Duchenne UK please contact:

Sarah Johnson – Communications Manager

[email protected]

About Duchenne muscular dystrophy

Duchenne muscular dystrophy is a life-shortening muscle-wasting condition, caused by the lack of a vital muscle protein called dystrophin. The condition causes muscles to weaken and waste over time, leading to increasing and severe disability. Most of those affected will use a wheelchair by the age of 12 and will face life-threatening health problems by their late teens as their heart and breathing muscles weaken. Few of those born with the condition currently live to see their 30th birthday.

Previous and next steps

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 today’s submission, 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.