Today the BBC have highlighted that just after announcing the Disability Action Plan, the government still haven't acted to increase financial support through the Disabled Facilities Grant.

The grant scheme was put in place to enable disabled people to make changes to their homes, so they can fully access and utilise all essential facilities and live safely and independently.

With adaptions including widening doors and installing ramps, to installing wet rooms or providing suitable heating systems.

Claiming capped

The maximum amount someone is entitled to claim is capped at £30,000 in England (£36,000 in Wales, £25,000 in Northern Ireland) with Scotland running a different process. The figures have been capped since 2008.

Now being over 15 years old, that amount in real terms is worth a third less and is often no longer fit for purpose for major building works.

Helping our community

Mirroring our own research and experience, the 2019-20 English Housing Survey recorded how the number of households lacking all of the adaptations they need had increased from 45% in 2014/15 to 53% in 2019/20, with one million households now reporting that they did not have all the adaptations they need.

This has been reflected in the number of calls about housing adaptations received to our helpline, along with general concerns over the cost of living and how this has impacted our community.

In December 2023 just under 700 people responded to our community survey about living with a muscle wasting or weakening condition. More than one third of respondents told us that their top concern was living in safe and accessible accommodation.  

Rob Burley, our Director of Campaigns, Care and Support said: “It’s extremely disappointing that the Government still haven’t acted on their commitment to increase financial support for vital home adaptations. We know this is a key issue for those living with a muscle wasting and weakening condition. We’ll continue to work to ensure everyone in our community is able to live in a safe and accessible home.

“We’re calling on the Government to honour its commitment to increase the amount of money that disabled people can claim to adapt their homes and ensure that this is in line with inflation.”

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We are supporting this process as one of two ‘Patient Experts’, and our Director of Care, Campaigns and Support, Rob Burley, will be taking part in the appraisal committee meeting on 5 March 2024 alongside a parent of a child who has experience of receiving vamorolone.  

We have developed a short survey to gather further views and insight from the Duchenne community to ensure that these are fully represented in the appraisal process. 

Vamorolone is manufactured by the company Santhera. In response to approval by the MHRA, the company noted the favorable safety and tolerability profile of vamorolone compared to conventional corticosteroids. Corticosteroids are routinely prescribed for Duchenne muscular dystrophy, as they slow the decline in muscle strength and mobility over time. However, there are many possible side-effects which must be carefully managed.  

The company highlighted results from its VISION-DMD study, which showed that boys treated with vamorolone on average maintained growth similar to those treated with placebo, whilst those treated with prednisone (a corticosteroid) on average experienced growth stunting.  

Patients who switched from prednisone to vamorolone after 24-weeks were, on average, able to resume growing in height over the remainder of the study. Unlike corticosteroids, vamorolone did not result in a reduction of bone metabolism. In addition, patients who switched from a standard of care corticosteroid to vamorolone maintained the efficacy benefit while recovering their growth and bone health. 

The VISION-DMD study did report some adverse side-effects, which included vomiting and vitamin D deficiency. These adverse side-effects were reported as being generally of mild to moderate severity. 

NICE is particularly interested in understanding more about the community’s thoughts on existing corticosteroid treatment options, and the potential advantages or disadvantages that vamorolone may have in comparison to them. 

The survey will close at midnight on Sunday 4 February 2024. We will provide further information and updates as the process continues and if you have any questions or comments you can contact info@musculardystrophyuk.org.  

In September 2023 we shared news that the European Medicine Agency’s (EMA) human medicines committee (CHMP) had released a recommendation not to renew the approval (authorisation) for the marketing of Translarna – this is the approval for Translarna to be made available in the European Union.

The company that manufactures the treatment, PTC, appealed the decision and requested a formal re-examination. This process is now finished and on Friday 26 January 2024 the EMA confirmed its recommendation for non-renewal of the marketing authorisation. The process found that while there was evidence of benefit from the treatment, it’s not statistically significant. There are no concerns about the safety of the treatment.

This decision means that Translarna will shortly stop being available to patients in the EU. The decision does not affect availability in England, Wales and Scotland as marketing authorisation in Great Britain is the responsibility of the Medicines and Healthcare products Regulatory Agency (MHRA) and not the EMA.

In Northern Ireland, which is currently covered by the EMA, a system is in place that is designed to ensure that people in Northern Ireland can continue to access treatments available in Great Britain where there is a risk that clinical need for that treatment cannot be met. This is called the Northern Ireland MHRA Authorised Route (NIMAR) and we understand that its application is being explored in this case.

We are seeking clarification on availability in Northern Ireland.

A year ago, 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. In its guidance (which applies to England, Wales and Northern Ireland), NICE confirmed that Translarna is clinically effective and that it’s 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. We are therefore fully supportive of the treatment’s continued availability and are disappointed by the outcome of the EMA process.

Translarna is available in Scotland through the ‘ultra-orphan pathway’ and the Scottish Medicines Consortium (SMC) is due to appraise it in 2025.

We’ll continue to keep you up to date as we receive further information.

If you would like to talk to someone, our helpline are here to offer free information and support. We’re open Monday – Thursday 10am-2pm. Call 0800 652 6352 or email info@musculardystrophyuk.org.

In January 2019, we partnered with the University of Oxford to form the MDUK Oxford Neuromuscular Centre to drive forward the development of new therapies and treatments and increase the capacity of clinical trials for muscle wasting and weakening conditions in the UK.

The Centre, with Professor Matthew Wood as its Director, and Professor Kevin Talbot and Dame Kay Davies as co-Directors, brought together researchers and experts from across existing sites in Oxford and further afield, with the goal of making Oxford the third hub for muscular dystrophy research in the UK − along with London and Newcastle.

As part of our ongoing partnership, we’ve invested over £1.2 million into the centre over the past five years. During that time, the centre has made significant progress on the goals and milestones it set out to achieve.

To celebrate the centre’s fifth anniversary, we’ve outlined some of these fantastic achievements:

Significant growth in Oxford’s clinical trial capacity

Before the centre was set up, almost no clinical trials for muscle wasting and weakening conditions took place in Oxford due to a lack of expertise and infrastructure, including space, equipment, and other things that facilitate clinical trials, amongst other challenges. Since our investment, and thanks to the recruitment of Professor Laurent Servais, Professor of Paediatric Neuromuscular Diseases, there’s been a significant growth in Oxford’s clinical trial capacity. Today, over 20 clinical trials are either in progress or being set up. These include both interventional, checking if a drug works, and observational, natural history studies, trials.

Dedicated space for new clinical trials for children

In 2019, there was an urgent need for dedicated clinical research facilities where clinical trials for children could safely take place. Thanks to the local NHS Trust and the centre this has changed, and facilities are now available. Even better, the number of these is likely to increase over the coming years, helping to further build the capacity and ability to carry out clinical trials in children with muscle wasting and weakening conditions, as well as other childhood conditions.

A state-of-the-art newborn screening programme

Professor Laurent Servais has set up a state-of-the-art newborn screening programme for spinal muscular atrophy (SMA), the ongoing pilot of which is in Thames Valley. The newborn screening programme aims to screen a minimum of 10,000 newborn babies for SMA each year over three years. This work also extends well beyond Oxford, with several regions involved in the pilot study. This will provide evidence in support of a UK national screening programme for treatable muscle wasting conditions.

Every baby in the UK is offered screening tests for various conditions in their first week. Currently, SMA is not one of the conditions screened for, despite being included in many other countries’ newborn health checks. While most babies are healthy, for babies who do have a health problem, the benefits of screening can be lifesaving. This is the case with SMA – a condition that a baby is born with every five days in the UK. Treatment before symptoms start is vital. Once a child starts to show symptoms of SMA, there is already irreversible damage to the nervous system, which affects muscles and movement.

“This study represents a unique platform in the UK that we hope will change clinical care for children with SMA now that there are three possible treatments for the condition either recommended by NICE for use by the NHS or in the process of being appraised. Setting the standard of early detection and management of SMA will be a good example for other conditions, such as Duchenne muscular dystrophy’’ Professor Laurent Servais

New therapies in development

The centre has been developing new therapies and treatments for several muscle wasting and weakening conditions. This was a key priority and aspiration from the beginning.

Molecular patches

One of the most prominent achievements of the centre was the development of a drug from ‘bench-to-bedside’ – going from basic research all the way to clinical testing. Working with Wave Life Sciences, Professor Wood and his team have developed a new antisense oligonucleotide (or molecular patch) called WVE-N531. This is a potential treatment for people living with Duchenne muscular dystrophy (DMD) and is currently being tested in an early phase clinical trial by Professor Servais. The potential treatment works by skipping over genetic changes in exon 53 that cause DMD.

More molecular patch therapies for DMD and myotonic dystrophy type 1 (DM1) are also in development with a pharmaceutical company.

Increasing the production of utrophin

Professors Kay Davies and Angela Russell are developing new treatments to help increase the production of utrophin in people with DMD. Utrophin can replace the function of dystrophin, which isn’t being produced in people with DMD.

Progress on development of other therapies

Professor Carlo Rinaldi and his team are working on developing a new gene therapy to treat spinobulbar muscular atrophy (SBMA), while Professor David Bennett’s team is looking for treatments for hereditary sensory neuropathy type 1 (HSN1).

Five successful years

These achievements have established Oxford as one of the leading centres for muscular dystrophy research in the UK.  

Catherine Woodhead, Chief Executive of Muscular Dystrophy UK said: “We’re extremely proud of how far this partnership has come in the past five years. It’s exciting to see treatments developed in Oxford laboratories being part of a clinical trial, and even more exciting that Oxford itself is one of the trial sites. Such an increase in the number of clinical trials is something that we had not imagined five years ago. The MDUK Oxford Neuromuscular Centre and its dedicated team have achieved some incredible advances which hold real promise for people living with a muscle wasting condition, particularly especially children, who will particularly benefit from newborn screening for with an available treatment for SMA.”

Professor Matthew Wood, Professor of Neuroscience at the University of Oxford and director of the MDUK Oxford Neuromuscular Centre, said: “Celebrating the remarkable journey of the MDUK Oxford Neuromuscular Centre, we’re proud of the success the centre has achieved in the last five years. With over 20 clinical trials currently ongoing or in preparation, as well as several new treatments in development, we’ve elevated the centre to the top three centres for neuromuscular research in the country.”

We’re incredibly grateful for the amazing support we’ve received from the many major donors who have helped fund the MDUK Oxford Neuromuscular Centre. With special thanks to the Q Trust, led by Charles Scott and Charles Manby MBE.

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Limb girdle muscular dystrophy 2E/R4, also known as beta sarcoglyanopathy, is a progressive genetic condition caused by changes in the protein called beta-sarcoglycan. It affects the muscles around the hips and shoulders before progressing to the leg and arm muscles. There are currently no treatments for this condition.

Sarepta Therapeutics have begun screening − matching potential participants with their eligibility criteria − for a clinical trial to investigate a gene therapy, SRP-9003, to treat LGMD2E/R4. SRP-9003 is an investigational gene therapy, which can be delivered into muscle tissue, including the heart. This is very important for people living with LGMD2E/R4, as the condition affects their heart muscle. The therapy is intended to deliver full-length beta-sarcoglycan into the cells of people living with LGMD2E/R4.

The trial, called EMERGENE, is a phase III, open-label, multi-national clinical trial. It will recruit 15 participants aged four or over; those who can walk and those who use a wheelchair. Recruitment will start at the US sites first − we’ll provide an update about potential UK/European sites when this information becomes available.

Read Sarepta Therapeutics’ press release in full here.

We’re delighted to announce 24 neuromuscular centres across the UK are the recipients of our prestigious Centre of Excellence awards. 

The centres are recognised for providing outstanding care, promoting best practice locally and nationally and demonstrating their commitment to improving health and care for the muscle wasting and weakening community.

The information gathered through the awards process provides a benchmark of neuromuscular services across all centres that took part in the national audit. This will help centres in their efforts to build business cases for additional NHS investment in core services.

Breaking down our national audit

Around the UK centres in Belfast, Birmingham, Bristol, Cambridge, Leeds, Liverpool, London, Newcastle upon Tyne, Oswestry, Oxford, Manchester, Nottingham, Plymouth, Preston, Salford, Sheffield and Southampton received an award. These were broken down into the following categories:

• 16 Centre of Clinical Excellence with Research
• Two Centre of Clinical Excellence
• Three Centre Pursuing Clinical Excellence with Research
• Three Centre Pursuing Clinical Excellence

Our Chief Executive, Catherine Woodhead, said: “We would like to congratulate all centres that have been recognised with a Centre of Excellence award after a robust and rigorous assessment of their service by leadi ng neuromuscular experts and members of the muscle wasting and weakening community. Despite continuing pressures and challenges within the NHS, these centres strive every day to ensure they promote best practice and provide an exemplary service. 

"The findings from our Centre of Excellence awards demonstrate that many centres continue to require investment to develop specialist multi-disciplinary teams that can provide the best care possible along with a working environment that fosters the ability to conduct or support excellent research and access to clinical trials to advance treatments and other scientific progress. That's why we're calling on commissioners to include requirements for the provision of the recommended standards of neuromuscular care.”

Reviewing every three years 

Our Centre of Excellence awards take place every three years. The audit is overseen by our Services Development Committee, and an independent sub-committee of neuromuscular health professionals and people with lived experience of neuromuscular conditions. The audit reviews information, a range of case studies and examples of best practice as well as assessing the way neuromuscular services are organised and how people using the services can access them.

Dr Helen Roper, retired Consultant Paediatrician formerly of Birmingham Heartlands Hospital, Chair of Muscular Dystrophy UK’s Centre of Excellence awards Sub-Committee said: “I’m grateful to all expert members, as well as our volunteer auditors, who’ve generously given their time and shared their clinical expertise to help ensure that all participating centres are robustly assessed.

“This has enabled us to have a wide picture of the provision of clinical care and research capacity at neuromuscular centres across the UK, including allowing us to identify the pressures and barriers centres face in providing the best practice of care. I look forward to seeing advancement in neuromuscular care for everyone living with a muscle wasting and weakening condition, with the support of Muscular Dystrophy UK as a leading patient organisation in the sector.”

Providing essential care for those living with a condition  

David Gale, 40, was diagnosed with Becker muscular dystrophy in 1988 aged five. He is a patient at the John Walton Muscular Dystrophy Research Centre, Newcastle Upon Tyne who have just been acknowledged with a Centre of Excellence award.

David said: "Since my diagnosis at a young age to now being 40, I’ve always received excellent support from the experts at the centre. I can contact anyone with a query and confidently know I’ll get a prompt answer, with any support being second to none. Hearing the centre has been awarded a Muscular Dystrophy UK Centre of Excellence award is fantastic.

“Thanks to everyone involved for their continued support of the neuromuscular community. Long may it continue. It really does make a difference to those living with a muscle weakening or wasting condition."

Centres awarded

Muscular Dystrophy UK Centre of Clinical Excellence with Research

1. Neuromuscular Team, Alder Hey Children's NHS Foundation Trust, Liverpool 
2. Atkinson Morley Neuromuscular Centre, St George's University Hospitals NHS Foundation Trust, London
3. Birmingham Heartlands Hospital, University Hospitals Birmingham NHS Foundation Trust
4. Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust
5. Evelina London Children’s Hospital, Guy's and St Thomas' NHS Foundation Trust, London
6. The Neuromuscular Service at Leeds Children’s Hospital, The Leeds Teaching Hospital NHS Trust
7. North Bristol NHS Trust, Bristol
8. Oxford Muscle Service, Oxford University Hospitals NHS Foundation Trust
9. Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust
10. Neuromuscular Team, Sheffield Children's NHS Foundation Trust, Sheffield
11. Academic Neuromuscular Disorders Unit, Royal Hallamshire Hospital, Sheffield Teaching Hospitals NHS Foundation Trust
12. The John Walton Muscular Dystrophy Research Centre, The Newcastle upon Tyne Hospitals NHS Foundation Trust
13. Greater Manchester Muscle Disease Unit, Northern Care Alliance NHS Foundation Trust, Salford
14. Neuromuscular at Oswestry (NEMO), The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust, Oswestry
15. The Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, Great Ormond Street Hospital for Children NHS Foundation Trust, London 
16. The Queen Square Centre for Neuromuscular Diseases, the National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London

Muscular Dystrophy UK Centre of Clinical Excellence

1. Southampton Children's Hospital, University Hospital Southampton NHS Foundation Trust
2. The Wessex Neurological Centre, University Hospital Southampton NHS Foundation Trust

Muscular Dystrophy UK Centre Pursuing Clinical Excellence with Research

1. Royal Preston Paediatric Neuromuscular Service, Lancashire Teaching Hospitals NHS Foundation Trust, Preston
2. The Neuromuscular Team, The Walton Centre NHS Foundation Trust, Liverpool
3. Regional Neuromuscular Service – Northern Ireland, Belfast Health and Social Care Trust, Belfast

Muscular Dystrophy UK Centre Pursuing Clinical Excellence

1. Nottingham Adult Neuromuscular Team, Nottingham University Hospitals NHS Trust
2. Addenbrooke’s Paediatric Neuromuscular Service, Cambridge University Hospitals NHS Foundation Trust
3. University Hospitals Plymouth NHS Trust, Plymouth

XLMTM and liver disease

Over the past few years, it’s become clear that some people with XLMTM can experience problems with their liver. To improve the care of these patients, we need to understand how having a myotubular myopathy-causing genetic change can affect how the liver works and responds to stress. A team at The Hospital for SickKids in Toronto Canada, led by Dr Dowling, has made great progress in understanding more about these liver problems.

Developing understanding

In their project, Professor Dowling’s team plans to use both mouse and human liver cell models to better understand the cause of liver disease in people living with XLMTM and to help develop a treatment. The team has a mouse that has the same genetic change found in people with XLMTM and they’ve discovered that some of these mice have liver problems. They have also found that the different diets they eat can either make the liver disease better or worse, depending on the kind of diet. The team now plans to test different feeding formulas currently given to humans to see whether they have a positive or negative effect on the mice’s liver with the goal of identifying a formula that improves the liver symptoms.

It’s also likely there’s other potential triggers such as infection that can make liver problems in XLMTM more likely to occur, or more severe. While this hasn’t led to significant liver disease in most patients, understanding these risk factors and how they may impact on the condition and respond to new therapies, is critical. To address this challenge and better define the interplay between environment, therapy and XLMTM liver disease, the team will study differing triggers using the XLMTM mouse model.

Building on years of research

Professor Dowling’s team has created human liver cells with the myotubular myopathy-causing genetic change. Professor Dowling says: “We plan to use these cells to study at the molecular and cellular level why the genetic change in XLMTM is harmful to the liver, and why it differs between people. We hope to use both this cellular model and our mouse model together to test out different drugs with a goal of identifying one that can reduce the liver problems and that could be used to treat people with XLMTM.”

Professor Dowling and his team at SickKids are determined to investigate this important area, building on their years of research into XLMTM. He says: “This grant from Myotubular Trust and Muscular Dystrophy UK will allow us to carry out fundamental work on the liver in XLMTM, to understand why and when liver problems happen in XLMTM and how to treat them.”

Dr Kate Adcock, Director for Research and Innovation at Muscular Dystrophy UK says: ‘We’re delighted to be partnering with Myotubular Trust to fund this vital research into myotubular myopathy. This project has the potential to greatly enhance our understanding of the liver complications experienced by some people living with the condition.’

Find out more about the other research projects we are funding.

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In September we shared the news that NICE had published draft guidance on the use of the treatment efgartigimod for generalised myasthenia gravis, which didn’t recommend it for NHS use. 

NICE consulted on this draft guidance and a second committee meeting took place on 16 November. Usually, publication of final guidance on the treatment being appraised would follow this, but in this case, NICE has taken the rare step of publishing a second draft guidance with a third committee meeting scheduled for May 2024. 

This second draft guidance still finds that efgartigimod should not be recommended for NHS use, but the fact that there will be a third committee meeting suggests NICE feels some of the issues around the treatment that led to this position could be addressed through further discussion and evidence gathering. 

What does the draft guidance say? 

This second draft guidance repeats the conclusions of the first that: 

• Efgartigimod is not recommended, within its marketing authorisation, as an add-on to standard treatment for generalised myasthenia gravis in adults who test positive for anti-acetylcholine receptor antibodies. 

• This recommendation is not intended to affect treatment with efgartigimod that was started in the NHS before this guidance was published. People having treatment outside this recommendation may continue without change to the funding arrangements in place for them before the guidance publication, until they and their NHS clinician consider it right to stop. 

What does this mean? 

If accepted, this means people not currently receiving efgartigimod through the NHS in England will be unable to access it. However, people already being treated with efgartigimod will be able to continue to do so until their doctor considers it's no longer necessary. 

The NICE appraisal consultation document can be read in detail here and is now open for consultation. 

The draft guidance acknowledges that ‘clinical trial evidence suggests that efgartigimod plus standard treatment improves symptoms and people’s ability to carry out their normal activities compared with standard treatment alone’ but highlights uncertainties that led the appraising committee to conclude it wasn’t clear efgartigimod was cost-effective enough to be recommended for NHS use. 

Some of the remaining areas of uncertainty include to what degree evidence gathered from clinical trials applies to the group of patients who the company wants to make the treatment available to; the degree to which efgartigimod would reduce the need for ‘maintenance intravenous immunoglobulin (IVIg)’, a treatment that can be used to boost antibody levels in people with myasthenia gravis; how the possible placebo effect from clinical trials has been factored into assessments of the treatment’s effectiveness; and the impact of myasthenia gravis on carers. 

Our response and next steps 

We’re disappointed and frustrated that some of the uncertainties highlighted in the first draft guidance remain unresolved. We’re particularly concerned that the impact of myasthenia gravis on carers is still considered uncertain, when much of the evidence we, patient experts and the charity MyAware, have put forward has focused on this issue. 

We’ve received compelling testimony from people who have received efgartigimod through an Early Access to Medicines Scheme (EAMS) about its positive impact on them and their families, and we’re calling on all parties to work together to address the uncertainties that remain −we’ve met with NICE and the company since the last committee meeting. 

While delays in securing wider access to efgartigimod are concerning, the fact that there will be a third NICE committee meeting is a positive sign that they feel the uncertainties could still be addressed and a positive recommendation might be made. We’ll continue to engage in the formal NICE process and will work with all parties in the hope that the process can be sped up. 

How you can share your views 

If you’re currently receiving efgartigimod and are affected by this news, we’re keen to hear from you so we can include your views in our work. Email our Campaigns teams. 

We will again be making a joint consultation submission with MyAware. You can make your own direct submission to the process through the NICE website. 

If you’ve been affected by this announcement, contact us on 0800 652 6352, Monday to Friday, 10am-2pm, or email: info@musculardystrophyuk.org