On Friday, 22 September, PTC Therapeutics, the company that manufactures Translarna, issued a statement to Duchenne Patient Advocacy Organisations that provides an update on the European Medicine Agency’s human medicines committee (CHMP) decision not to recommend renewal of the conditional marketing authorization for Translarna.

The statement confirms that PTC will be appealing the decision through an established re-examination process, and that the CHMP opinion does not cover Great Britain (England, Scotland & Wales).  Therefore patients in England, Scotland and Wales are not in scope of the CHMP opinion.

The statement also emphasises that the CHMP did not express concerns regarding the safety of Translarna and that more than 3,000 patients have been treated with Translarna worldwide and more than 700 patients have been involved in the clinical trials.

Under current post-Brexit arrangements, Northern Ireland is within the scope of the CHMP opinion. Patients in Northern Ireland currently receiving Translarna will be able to remain on treatment and new patients will be able to start Translarna during the re-examination process.

According to CHMP guidelines, the re-examination procedure could last until January 2024, with European Commission adoption within 67 days after that i.e. by the end March 2024.

We are monitoring the situation and will continue to keep the community informed of developments.

If you need support or information please do contact our helpline. 

Translarna currently has a conditional marketing approval (authorisation) from the EMA, given in July 2014. A conditional approval allows a medicine to be made available based on less far reaching information/data than is normally required. This is used when the EMA assesses that the benefits of having the treatment available earlier are greater than any risks from using the medicine while waiting for more evidence/information to come through.

The EMA has now concluded that the further studies that have since been carried out do not show a clear benefit from Translarna, and they are therefore not renewing its approval for marketing. 

Read the full EMA Statement. 

Reactions to this news

The company that manufactures Translarna, PTC, has expressed surprise and ‘extreme disappointment’ at the announcement. It plans to submit a request for this to be looked at again by the EMA. While this is happening Translarna will still be available on the market across the EU and available to patients until the process to look at it again has been completed – this is likely to be in early 2024.

Read PTC’s statement. 

The World Duchenne Organisation has expressed ‘deep disappointment’ at this news and has highlighted the importance of real-world data – information from patient surveys, patient health records etc. – being considered by regulators, particularly when considering clinical trials in complex conditions such as Duchenne. They highlight that in rare disease, it is not always possible to show substantial benefit within the timeframe of clinical trials.

Read the World Duchenne Organisation's statement.

What this means for people in the UK

In the UK, Translarna has a marketing authorisation from the Medicines and Healthcare products Regulatory Agency (MHRA).  

In January 2023, the National Institute of Health and Care Excellence (NICE) published final guidance recommending Translarna as an option for treating Duchenne muscular dystrophy resulting from a 'nonsense mutation’ in the dystrophin gene in people two years and over who can walk.  

We have been leading the fight for access to the treatment since 2016, working alongside families, clinicians, and other patient groups.  

In its guidance (which applies to England, Wales and Northern Ireland), NICE confirmed that Translarna is clinically effective and that it is likely to slow the progression of Duchenne muscular dystrophy for eligible patients. It also recognised that it has a positive impact on both the lives of people receiving it and on caregivers. Translarna is available in Scotland through the ‘ultra-orphan pathway’ and the Scottish Medicines Consortium (SMC) is due to appraise it in 2025. 

Read our update concerning PTC's statement (released on 22 September 2023). 

Our new research grants cover a variety of different muscle-wasting conditions, such as ADSSL1 myopathy, Becker muscular dystrophy, Charcot-Marie-Tooth disease, Duchenne muscular dystrophy, mitochondrial myopathy, myasthenia gravis, myotonic dystrophy type 1, as well as spinal muscular atrophy. 

Funding firsts and increasing our reach 

We’re very excited that for the first time we’ll be funding research into ADSSL1 myopathy and X-linked spinal muscular atrophy (XL-SMA). We’re equally proud to see an increasing number of conditions in our research portfolio.  

Funding projects across the UK 

Our grants now reach across the whole of the UK, with grants awarded this year to projects across England, Northern Ireland, Scotland, and Wales. These include projects at Manchester Metropolitan University, Cardiff University, and the University of Ulster.  

Our 2023 grants were awarded to: 

• Testing new potential treatments for ADSSL1 myopathy, Cardiff University 

Dr Fabrizio Pertusati at Cardiff University will produce synthetic drugs that could improve how energy is used in muscles as potential treatments for ADSSL1 myopathy. 

• Genome editing for Becker muscular dystrophy, Teesside University 

A PhD studentship project, Professor Linda Popplewell and her student will be working to develop a new therapy to correct genes in people with Becker muscular dystrophy (BMD), with the onward potential to delay the progression of BMD and prevent early onset of heart complications.  

• Understanding the immune response in people with myasthenia gravis, University of Oxford 

Dr Maria Isabel Leite will be using the latest techniques to investigate proteins that trigger the immune response that leads to myasthenia gravis (MG), to develop a better understanding of the cause of MG and to improve future treatments. 

• Understanding changes in mitochondria in muscles of people with myotonic dystrophy type 1, Newcastle University 

Professor Grainne Gorman will be looking at changes in mitochondria in the muscles of people with myotonic dystrophy type 1 (DM1) following 12 weeks of light weightlifting training. Knowing what happens to mitochondria in these muscles will help identify therapy targets for treating DM1. 

• Nerve or Muscle? Examining the cause of Charcot-Marie-Tooth disease, University College London 

Professor Giampietro Schiavo and his research team will explore whether it’s muscle or nerve tissue that’s responsible for the development of Charcot-Marie-Tooth disease. 

• Using antibiotics to treat symptoms of myotonic dystrophy type 1, University of Nottingham 

Professor David Brook and his research team will investigate how useful a particular group of antibiotics is in reducing symptoms of myotonic dystrophy type 1 (DM1) at the molecular level. If successful, the researchers will set up a clinical trial to test it on people with DM1.  

• Developing blood tests for improved diagnosis and measuring the progression of neuromuscular conditions, University of Ulster 

Dr Stephanie Duguez and her research team will be working to improve the diagnosis and measuring of the progression of neuromuscular conditions such as spinal muscular atrophy, by developing blood tests that can detect specific molecules (called sphingolipids) — amounts of which differ between people with a muscle-wasting condition and those who do      not have a muscle-wasting condition. 

• Characterising pre-clinical models and testing gene therapy for X-linked spinal muscular atrophy, University of Edinburgh 

Professor Thomas Gillingwater and colleagues previously developed gene therapy to treat X-linked spinal muscular atrophy (XL-SMA). They were unable to test this due to the lack of animal models. In this project, the researchers will characterise a newly generated mouse model ‒ much needed to test new treatments for XL-SMA. 

• Exploring the body’s response to dietary protein in adults with BMD, Manchester Metropolitan university 

Dr Nathan Hodson and his PhD student will investigate the metabolism of people with BMD and examine if increased protein intake will benefit their physical strength and quality of life.

• Monitoring the progression of Duchenne muscular dystrophy using MRI, University College London 

Professor Chris Clark will use an MRI technique called the Dixon method to measure the progression of Duchenne muscular dystrophy by looking at the water and fat content in the muscles of people with the condition. 

• Diagnosis of primary mitochondrial myopathies using MRI to measure how muscles use oxygen, University College London 

Dr Robert Pitceathly will use a special MRI to measure how muscles use oxygen in people with primary mitochondrial myopathy. Ultimately this approach could help diagnose primary mitochondrial myopathy, which has proved challenging to date. 

Kate Adcock, Director of Research and Innovation at Muscular Dystrophy UK said: 

We’re really pleased that this year our research grant funding reaches out across the UK, to institutes in England, Northern Ireland, Scotland and Wales. Helping us to go further in funding groundbreaking research and changing the lives of people living with muscle wasting conditions.

Read about all the research projects we fund. 

Donate now and help us to fund groundbreaking research and life-changing support. 

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