Devastating blow as European Medicines Agency rejects Duchenne muscular dystrophy treatment

Access to a potential treatment for the life-limiting condition Duchenne muscular dystrophy will be delayed, after the European Medicines Agency (EMA) rejected it.

Exondys 51 is designed to treat an estimated 10-15% people who have the devastating condition. NICE was due to assess the treatment for use on the NHS in England this summer, but the EMA’s decision not to grant a licence will push this back by several months.

Muscular Dystrophy UK is advising families who could benefit from Exondys 51 to discuss with their consultants to see if they can access treatment through the limited options already available.

Duchenne affects around 2,500 mostly boys and young men in the UK, gradually affecting mobility, breathing and the heart. Few of those born with the condition currently live to see their 30th birthday, and the progressive condition means muscle strength is lost every day. Most young men will be using a wheelchair by their teenage years.

Exondys 51 – approved in the US in 2016 – is not a cure, but it has the potential to slow down the progression of this devastating muscle-wasting condition, buying families valuable time and keeping children walking for longer. It is designed for the 10-15% of people with Duchenne who are amenable to the skipping of exon 51 in the dystrophin gene.

Muscular Dystrophy UK is organising an urgent roundtable meeting with scientists, families and regulators to discuss the way forward for exon-skipping treatments.

Gathering good data is difficult for new treatments for rare disease drugs. Muscular Dystrophy UK is calling for Exondys 51 to be made available on an interim scheme while more information can be gathered, as currently happens with the treatment Translarna, ensuring that those who could benefit from treatment do not miss out on it.

The charity – which continues to push for quicker access to treatments through its Fast Track campaign – will continue to work with charity partners in the UK and internationally to ensure patients’ voices are heard. Meanwhile, pharmaceutical manufacturer Sarepta has announced it intends to appeal the EMA’s decision.


Robert Meadowcroft, Chief Executive of Muscular Dystrophy UK, said:

“The life-limiting nature of Duchenne means there is a limited window of opportunity to deliver treatment. So it’s a devastating blow to families to hear that efforts to bring it to Europe will be delayed. We understand the frustration that the Duchenne community will be experiencing right now and will be doing all that we can to ensure their voices are heard throughout this process.


“Every day counts for people with Duchenne, which is why it’s encouraging to hear that Sarepta remains committed to bringing this treatment to Europe. Knowing there is a drug out there with the potential to help children walk for longer gives hope to many families for a better future.


“Through our Fast Track campaign, we remain determined to get potential treatments to people faster.”


Mandy Roe’s five-year-old son, T-Jay, has Duchenne muscular dystrophy and is one of the 10-15% of people who Exondys 51 could help. Mandy, from Nottingham, said:

“Exondys 51 is a piece of hope for T-Jay and us, a ray of light in a very dark tunnel. It’s not a cure, it may only make a small difference in the minds of the people assessing it. What is small to them could be huge for T-Jay. It could be another year, another two, able to walk, run, dance, keeping the strength in his arms, playing games on his computer.


“If I could speak to the decision-makers directly, I would ask them to please help my son. We’ve waited years for a treatment to make a difference for T-Jay. If Exondys is found to be it, don’t make us wait a moment longer.”

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