Eteplirsen is designed to treat an estimated 13% of the Duchenne population amenable to the skipping of exon 51. We are disappointed to share the news that the CHMP’s trend vote was negative. This means that efforts to bring eteplirsen to people living with Duchenne in Europe will be delayed.

You can read more in this letter to the European Duchenne Community from Sarepta. 

What happens now?

We share the deep disappointment that families will be feeling at this decision, however, there are major steps being planned to engage the relevant regulatory stakeholders and we will all be working to support you in sharing your stories and lived experience.

Sarepta have told us that they remain committed to bringing eteplirsen to people living with Duchenne in Europe. The next step is for the final oral explanation from the CHMP meeting to be published which will be shared and Sarepta have already requested that that CHMP re-examine the eteplirsen submission. The company will be looking to appeal the negative decision, unfortunately this means a delay of several months. We will ensure to share any relevant news and documentation as soon as possible.

We are waiting to hear from Sarepta about what this news means for the highly specialised technology appraisal of the treatment by NICE and will update the community as soon as possible. We know that every day counts for people with Duchenne. Rest assured, that the UK patient organisations are committed to working together, keeping you updated and ensuring the patient voice is at the heart of the process.

Acceleron Pharma has announced the US Food and Drug Administration (FDA) has granted Fast Track Designation to ACE-083, for the treatment of facioscapulohumeral muscular dystrophy (FSHD). This status will help speed up the development and regulatory review process of the drug.

ACE-083 is currently being evaluated in a Phase 2 trial in individuals with FSHD.

For more information, please read Acceleron’s press release.

The 11^th UK Neuromuscular Translational Research Conference was held in Cambridge on 19-20 April 2018. Jointly organised by MDUK and the MRC Centre for Neuromuscular Disease, the conference showcased recent developments in research and was attended by eminent international scientists.

The conference included talks and posters on a range of neuromuscular conditions. We were delighted to see lots of MDUK-funded researchers in attendance, both presenting their work and networking and learning from others. Our congratulations also go to Dr Francesco Saverio Tedesco, who won a prize for his poster on his mini-muscles project.

There were some interesting talks on myotonic dystrophy, two of which featured MDUK-funded research. Dr Ashling Holland from Oxford University spoke about her work with Professor Wood to develop a molecular patch therapy for myotonic dystrophy type 1. Professor David Brook from Nottingham University showed how his lab’s screening strategy - which was developed with the help of MDUK funding – has identified a cancer drug that could potentially be repurposed for myotonic dystrophy.

Professor Matthew Wood from Oxford University gave the ‘Joana Domingos Memorial Lecture’ on the development of exon skipping drugs for Duchenne muscular dystrophy. This lecture was named after Dr Joana Domingos, a young clinical research fellow who sadly died earlier this year. Dr Domingos worked closely with children with Duchenne as she was involved in a number of clinical trials at Great Ormond Street Hospital.

Dr Brian Kaspar from AveXis gave an update on the company’s gene therapy trials for spinal muscular atrophy (SMA). He showed some remarkable videos of children with SMA type 1 who had received the AAV-based SMN1 gene therapy. Many of these children have reached milestones never seen in SMA type 1 e.g. rolling over, sitting, swallowing and even speaking.

The conference also featured talks on myostatin, a protein that controls muscle growth. Blocking this protein could help to increase muscle mass and strength in people with neuromuscular conditions.

However, Dr Julie Dumonceaux from University College London presented data that questions the potential benefit of anti-myostatin therapies. She showed that some people with muscle wasting naturally have lower levels of myostatin than healthy people. This suggests that anti-myostatin therapies may not work in everyone with muscle wasting. For future trials testing these therapies, it may be necessary to check someone’s myostatin levels before enrolling them in the trial.

Further information

Find out more about MDUK-funded research

Visit our Clinical Trials Information Service

Whether or not your council has developed a Section 167 list, we have built this guide with the help of taxi and minicab access specialists SymsRudd to help you with your next journey.

 Use this checklist for taxis – known in law as Hackney carriages – to make sure you are being treated fairly:

• The meter in a taxi starts when the journey starts, not when you are being assisted into the vehicle. It also stops when the vehicle stops. The driver can then assist you out of the vehicle and help you to your destination. There should be no charge for this assistance. This follows guidance from the Department for Transport, which is further bolstered in explicit council guidance in some areas.

• The meter must start from the correct rate – you can ask to see the tariff chart to make sure a higher rate is not being used.

• When hiring a taxi on a rank, ask the driver for an estimate before you set off. If you can, check this against the tariff chart. If the journey is within the local district area a taxi can only charge a maximum of the rate shown on the tariff. If the journey goes outside of the district taxi drivers can ask for more or refuse to carry you.

When booking a minicab, follow these steps:

• Ask for a quote from the company. If you are given a fixed price from the operator this is the amount the driver should charge you.

• If you are told that the minicab will use a meter to charge you, this should be started when the journey begins and switched off when the journey ends. You should not be charged for assistance in and out of the vehicle.

• Ask if they will sub-contract the booking to a locally licensed taxi. If they say they will sub-contract the booking (this is fairly common), do not agree a fare that is higher than the local taxi tariff would allow.

• There should be no extra charge applied by the company if a person who travels in their wheelchair books a fully wheelchair-accessible vehicle – all customers should pay the same rate for the same type of vehicle from that particular company.

Drivers’ obligations and general information

• Legally, the driver must make sure you are safe and secure before driving. Speak to the driver before the journey if you are worried.

• Unless you have requested a wheelchair accessible vehicle, you should not have to wait for any longer than any other passenger would. Almost all vehicles will be able to carry a fold-up wheelchair.

• The driver must take the shortest or quickest route unless you have asked to go a certain way.

• A driver refusing to take you because of your disability is discrimination, and may also be a criminal offence.

• If the driver says that the ramps are not working or that they do not know how to use them, this should be reported.

• Different councils have different fares for taxis, while minicab firms set their own fares. This may explain why a journey from one town costs less or more than a journey in another town. If you are unsure, call the local council to check.

How to make a complaint

• Make a note of the vehicle registration number, plate number, make and model and colour, as well as the driver badge number. Don’t worry if you can’t get all this information – a couple of bits are often enough to trace the driver. If you can, ask for a receipt from the driver. This is often an easy way to get the driver or company details. You can find the driver number and registration on the boot, inside the door, and sometimes on a badge worn by the driver.
• Across England (not including London), Wales and Scotland, you will need to contact the relevant local authority. If in doubt, call your own local council licensing department.

• If you live in London, you need to contact Transport for London via their online form.

• Even if you do not want to go forward with a case against a driver, do report the matter as this helps local councils build a picture of any behaviour that is below the required standard.

The law can only be used in places where councils have created a special list of wheelchair accessible vehicles - but two thirds of councils haven't yet written them.

You can read more here on why this issue is so important and what Muscular Dystrophy UK is calling for to improve the situation.

This page pulls together what to do if your council is one of the hundreds across England, Wales and Scotland which hasn't introduced a Section 167 list.

You can also read our top tips on using taxis ahead of your next journey.

Is my council ready for the new taxi law?

You can find out if your council is ready in one of two ways: take a look at the map of council results, or for more detailed results, check the full Section 167 breakdown (Excel document), which also details how many wheelchair-accessible vehicles are licensed across the country.

The results cover 340 councils across England, Wales and Scotland, and in London through Transport for London.

Because of the time it has taken to gather this research, some councils may have now built their Section 167 lists - we would love to hear if they have done.

The data has been collected by Doug Paulley and the map built by Jeff Harvey/Transport for All.

What can I do if my council hasn't built a Section 167 list yet?

Letting your council know that this is an important issue can help make sure they take action. There are two example tweets you can send to your council to show why it's important, and you can also fill out our Council taxi letter template to post or email to your council.

• Section 167 lists hold taxi drivers to account if they discriminate against disabled passengers – but @(insert council’s Twitter handle) hasn’t produced one yet. Find out more @MDUK_News https://bit.ly/2HscQ8P
• I’m calling on @(insert council’s Twitter handle) to create a Section 167 list, so taxi companies who discriminate against disabled people can be held to account. Find out more @MDUK_News https://bit.ly/2HscQ8P

Only a third of councils in England, Wales and Scotland have created so-called Section 167 lists, which are needed to hold taxi drivers to account if they discriminate against disabled passengers.

A change in the Equality Act enacted in April last year means that taxi drivers now face fines of up to £1,000 if they refuse to transport wheelchair users or attempt to charge them extra. But this only applies to vehicles listed on Section 167 lists, which councils need to create.

Comprehensive research of 340 councils by disability activist Doug Paulley shows that most haven’t created them yet and 42 have no intention of ever doing so, despite a government-recommended deadline of October 2017.

The research lays bare the complex problems around the law change, with many councils confused as to their obligations. Around one in six councils that reported having a list in place have not met technical requirements, meaning they may not be legally useable.

The complexity has contributed to low awareness of the law change. No-one outside of London has attempted to use the law to hold taxi drivers to account for overcharging, ignoring or otherwise discriminating against disabled taxi passengers, despite the widespread and ongoing issues that Muscular Dystrophy UK hears from its supporters.

Nirav Shah, who has congenital muscular dystrophy and lives in Nottingham, said:

“I’m a regular taxi user, but have had more bad experiences than good. Drivers have refused to take me, or have claimed that their ramp doesn’t work. I have also had some drive off and leave me on the pavement, and companies quoting twice what a metered fare would normally be. Disabled people should be able to get a taxi as easily as everyone else, and they certainly shouldn’t be charged more, but sadly this isn’t the case.”

Paulley’s research also shows:

• 12 councils have no wheelchair-accessible taxis, with a further 109 having fewer than ten;
• Only a third of councils provide disability awareness training, vital for ensuring taxi drivers know how to safely work with disabled people.

Muscular Dystrophy UK and Doug Paulley are calling for the Department for Transport to make the lists mandatory, arguing that the current system has proven unworkable.

Nic Bungay, Director of Campaigns, Care and Information at Muscular Dystrophy UK, which lobbied for years for the law change, said:

“Taxis are often the only way that disabled people can get from A to B when public transport isn’t an option but the new legislation simply isn’t working to help ensure they can do so safely and fairly. Doug’s research robustly demonstrates the impossible situation that many disabled people find themselves in. Passengers, taxi drivers and councils alike are crying out for clearer guidance, and we need to see the taxi lists made mandatory, to make this well-intentioned law workable.”

Doug Paulley carried out the research following a Select Committee report into the Equality Act 2010 on disability. He said:

“This new research provides a mixed bag of results: while some councils have made an effort to create a list, many have fallen foul of the complex fine print in the rules, leaving most passengers unable to use the new legislation. Councils alone can’t unpick the confusion. We need to see a stronger lead from the Department for Transport if disabled people are to get the tools they need to challenge overcharging and unsafe practices.”

Research by Muscular Dystrophy UK in 2016 indicated that a quarter of disabled people have been refused service by a taxi driver, purely because they are disabled.

We are delighted to announce that the Medicines & Healthcare Products Regulatory Agency (MHRA) have decided to maintain a positive opinion on the Early Access to Medicines Scheme for Raxone to treat people living with Duchenne muscular dystrophy.

This means that Raxone remains on course to have its Early Access to Medicines Scheme (EAMS) award renewed, so that patients over 10 years of age, showing a decline in respiratory function and who are currently not taking glucocorticoids, can continue to access Raxone until June 2019

You made it happen

This was a joint effort from the entire Duchenne community and Muscular Dystrophy UK, Action Duchenne, DMD Pathfinders, Duchenne Family Support Group and Duchenne UK cannot thank all of you who provided vital feedback to this process enough.

Each and every organisation appreciates how much effort and courage goes into providing this testimony, whether it is delivered in writing or in person, and we have no doubt this had a positive impact on the committee’s decision.

The UK Commission on Human Medicines (CHM) determined from the evidence and testimony received that the risk/benefit profile was acceptable and there is a clear high unmet medical need for patients with Duchenne. We were told that receiving feedback from such a wide spectrum of the community was integral to this decision.

Nic Bungay, Director of Campaigns, Care and Information at Muscular Dystrophy UK commented:

We welcome the decision of the MHRA to maintain its positive opinion of the Raxone EAMS. The testimonies provided by people living with Duchenne highlights the hope that Raxone represents for people. We are so grateful to everyone who fed into the process and shared their story.

Duchenne still has few treatment options and no cure. We must continue to look at innovative ways of bringing promising Duchenne treatments at the earliest possible stage to those who could benefit from them.

Access to Raxone

Raxone is used to slow the decline of respiratory function in patients with Duchenne from the age of 10 years who are currently not taking glucocorticoids. It is currently accessed via the EAMS which provides earlier availability of promising medicines to patients in the UK where there is high unmet clinical need. At the same time more data is able to be captured, to evaluate the effectiveness of the medicine. Treatment will only be provided in specialist centres that are experienced in managing Duchenne and there is a requirement for careful monitoring to ensure the safety of patients during the EAMS. People with Duchenne should speak with their doctor to find out whether the treatment is suitable for them.

You can find out more by reading this Frequently Asked Questions document produced by Santhera, the pharmaceutical company providing Raxone.

Researchers in Scotland have found that a protein called neurochondrin may play a role in spinal muscular atrophy (SMA).

Neurochondrin is an essential protein found in neurons. In this study, the researchers found that neurochondrin interacts with the SMN protein. This interaction seemed to occur within vesicles, which transport important biological messages inside neurons.

The researchers also found that motor neurones within the spinal cord contain high amounts of neurochondrin. Together, these findings suggest that neurochondrin is very important in the cells most severely affected by SMA.

The researchers now plan to examine whether neurochondrin is involved in the damage to motor neurones seen in SMA. This will help to determine whether neurochondrin is a good target for future therapy development.

Dr Judith Sleeman, Lecturer in Developmental Cell Biology in the School of Biology at the University of St Andrews, said:

This is a very exciting time for SMA research, with the first treatment recently released and promising results from gene therapy trials. However, it is unlikely that the treatments currently available or in development will provide a complete cure for SMA or be suitable for all patients. It is imperative that we understand how cells are damaged in SMA patients to continue to improve the lives of people affected by this devastating condition.

Further information

Access the full study published in the Journal of Cell Science.

Read the latest SMA research news

Find out about MDUK-funded SMA research