Earlier this year Muscular Dystrophy UK launched our new ‘Here for You: Mental Health Matters’ project. The project has been set up to ensure that individuals and families affected by muscle-wasting conditions receive better support with their mental health.

To help lead this work we have recruited an expert steering group of consultant neurologists, care advisors, psychologists, palliative care specialists and individuals and families affected by muscle-wasting conditions.

There has now been two meetings of the group, as well as an international workshop with the European Neuromuscular Centre, held earlier this month, which focused on psychological support at diagnosis.

We are now pleased to share the forthcoming activities that will be undertaken to improve psychological and palliative care and support for people with muscle-wasting conditions.

This includes:

• February: new factsheets on palliative care and psychological services
• From Spring 2018: two residential camps for people aged 18 – 25 focussed on peer and psychological support
• From Spring 2018: Three muscle group meetings a year in partnership with a specialist psychologist
• April 13^th: a consultation event for individuals and families to hear your views on psychological services and the project
• From Summer 2018: family fun and support days to help parents and their children meet others and have a fun day out
• Autumn 2018: a new training course for community psychologists will be launched to improve knowledge of the conditions
• Autumn 2018: a training event for care advisors and clinical nurse specialists to improve the psychological support they can offer

In addition to these new resources and events we will also be holding a six month long parliamentary inquiry through the All Party Parliamentary Group for Muscular Dystrophy. More details regarding the inquiry and how you can get involved will be available in the coming weeks.

Muscular Dystrophy UK are also working closely with statutory bodies to ensure the following:

• Specialist neuromuscular centres fund specialist neuromuscular psychologists that can see both adults, children and their families within clinic appointments
• A care pathway of psychological support for people with muscle-wasting conditions is created
• Awareness of muscle-wasting conditions and potential psychological needs associated with having a condition is improved

Nic Bungay, Director of Campaigns, Care and Information said:

Muscular Dystrophy UK regularly hear from individuals and families living with muscle-wasting conditions who are not receiving adequate support with their mental health and wellbeing. We are really pleased to announce these new resources that we hope will improve the care and support on offer across the UK.

If you would like to know more or become involved with our Mental Health Matters project please get in touch with our campaigns team: campaigns@musculardystrophyuk.org or on 020 7803 4826.

We hosted a parliamentary reception and Q&A discussion in Parliament yesterday to discuss how to remove the barriers to fast access to treatments which are set out in our Fast Track campaign

People affected by muscle-wasting conditions had the opportunity to speak to over 20 MPs from across the party spectrum to highlight the importance of being able to access emerging treatments as quickly as possible.

Mary Glindon MP, Chair of the All Party Parliamentary Group for Muscular Dystrophy, hosted a Q&A discussion with Sheela Upadhyaya from NICE and paediatric neurologist, Prof Francesco Muntoni.

Discussions at the event focused on a broad range of topics including:

• Flexibility on appraisal processes and opportunities to discuss the use of a Managed Access Agreement, enabling the treatment to reach patients more quickly whilst further data was gathered on its efficacy.
• Developing mechanisms for rapid appraisals for severe and life-limiting conditions, drawing on comparisons with other European countries on rapid access for rare disease drugs.
• Ensuring that UK drug licensing continues to linked to the European Medicines Agency and that decisions are taken on a parallel timeframe after Brexit.
• An abbreviated approval process so that when safety and effectiveness of a technique, such as exon skipping, have been satisfactorily proven, it will be important for the MHRA and other regulators to ensure that each drug would not have to go through the same lengthy approvals process from the start once the safety and efficacy.
• Changes to the drug approvals process place greater emphasis on cost and budget impact test. With more drugs now in clinical trials and many of them expected to come through, NHS England will be required to strike more deals with companies.
• Horizon scanning and exploring the growing number of trials and treatments and tackling the short and long-term challenges posed by this.

Contact your parliamentarian

• If you live in England, you can support the campaign by writing to your MP using our template letter.
• If you live in Scotland, you can support the campaign by writing to your MSP using our template letter.
• If you live in Wales, you can support the campaign by writing to your AM using our template letter.
• If you live in Northern Ireland, you can support the campaign by writing to your MLA using our template letter.

It would be helpful if you could share a copy of your email to your parliamentarian with us by emailing Jonathan Kingsley at j.kingsley@musculardystrophyuk.org so that we can also help to enlist their support.

Danish biotech company, Orphazyme, has assumed sponsorship of a phase 2/3 trial assessing the safety and efficacy of arimoclomol for the treatment of sporadic inclusion body myositis (sIBM).

The trial has sites at the University of Kansas Medical Center, USA, and the Institute of Neurology at University College London (UCL). The UCL site is expected to begin recruitment soon; we will let you know when this starts.

MDUK’s Chair, Professor Mike Hanna, is the principal investigator at the UCL trial site. He said in a press release:

Arimoclomol has strong potential benefit in patients with this disabling disease. We made the case quite strongly that arimoclomol should be properly tested in a large trial, and it is most exciting that we have now started the next step in the clinical development.

The exact cause of sIBM is not fully understood. Some research suggests that it is partly caused by certain proteins being folded incorrectly. These misfolded proteins accumulate in clumps inside the muscle, causing inflammation and muscle damage.

Arimoclomol is an experimental drug that enhances the cells’ ability to re-fold proteins. This could help to clear the toxic clumps in muscles affected by sIBM. You can read more about arimoclomol on Orphazyme’s website.

Further information

Find out more about the trial on clinicaltrials.gov

Read our news story about the previous arimoclomal study

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Blakemore Wholesale, based in the West Midlands spent the run up to Christmas raffling off donations from their suppliers to raise vital funds for research into Duchenne muscular dystrophy. Motivated by a close friend of the company, who has a son with the condition, Blakemore went on to raise a fantastic £1294. A cheque was presented to Regional Development Manager for the Midlands and Anglia last week by Marketing Manager, Ami Sandhu.

Staff and customers got on board to make the raffle a success.  Prizes included all kinds of food, drink and gifts. A huge thank you to all those who donated and purchased tickets.  Through your generosity enough money was raised to fund almost 30 hours of research into the muscle wasting condition.

US scientists have created a new mouse model of Duchenne muscular dystrophy (DMD) and treated it with an improved genome editing technique. This corrected the dystrophin gene and protected the muscles from damage. While the results of this preclinical study are promising, more research is needed before genome editing can be tested in people with Duchenne muscular dystrophy.

The new mouse model has a deletion of exon 50, which is one of the most common mutations causing DMD. This makes it an important tool for future DMD research. Previously, most studies have used the mdx mouse model, which has a different and less common mutation.

The exon 50 deletion puts the dystrophin gene “out of frame”. This means that exon 49 can’t join up with exon 51, as the ends of these two exons don’t fit together (see below). This leads to an incomplete, faulty dystrophin protein.

To put the gene back ‘in frame’, Professor Eric Olsen and his team at the Wellstone Muscular Dystrophy Research Centre, Texas, designed a CRISPR/Cas9 tool to make a single cut near exon 51. This was packaged into an adeno-associated virus (AAV) and injected into the bloodstream of very young mice with the exon 50 deletion.

The CRISPR treatment corrected the dystrophin gene and increased dystrophin production in the heart and muscles of the mice. Different tests showed that the muscles were healthy and muscle strength was improved. This demonstrates that treatment in very early stages of the condition can protect the muscles from damage.

When the researchers analysed the dystrophin gene of the CRISPR-treated mice, they found that it had been put in frame by two different mechanisms. One of these involved exon skipping, where exon 51 was ‘skipped’ (you can read more about exon skipping in our factsheet). This resulted in a dystrophin protein missing exons 50 and 51.

The other mechanism involved the insertion of a particular DNA letter (called adenosine) next to exon 51. This allowed exon 51 to join up with exon 49, resulting in a dystrophin protein missing only exon 50.

No off-target effects were found, which suggests that the Cas9 scissors were cutting the DNA in the right place. However further research is still needed to confirm the long-term safety of CRISPR/Cas9 and how long its therapeutic effect might last.

Prof Olson is the founder of Exonics Therapeutics, which aims to develop CRISPR/Cas9 for commercialisation.

Further information

For more information, read this press release, or the full paper in Science Translational Medicine.

Read the latest news on genome editing

Read about genome editing research funded by MDUK

Today, Muscular Dystrophy UK are pleased to be attending the 25th anniversary European Neuromuscular Centre workshop. As part of the workshop we will co-chairing a session on the position of neuromuscular patients in shared decision making.

‘Shared decision making’ is a process where health professionals and patients collaborate to share the best available evidence that supports patients to make the best possible informed decisions on their care.

The workshop session, on the position of neuromuscular patients in shared decision making will be attended by leading health professionals from across Europe. The session aims to improve these decision-making processes available and better involve individuals and families in these. Representatives from the UK in attendance include:

• Dr Ros Quinlivan, Queen Square
• Professor Hanns Lochmuller, Newcastle University
• Pauline McCormack, Newcastle University
• Dr Nathalie Bere, EMA London
• Mark Chapman, DMD Pathfinders
• Annie Lennox, Myotubular Trust

It is hoped that this will lead to better outcomes in healthcare and support. A particular focus of the workshop is on diagnosis of conditions and effects on mental health and wellbeing, as well as new born screening. It is important to cover potential support and pathways now with screening programmes for Duchenne muscular dystrophy and spinal muscular atrophy on the horizon.

Specific goals of the workshop include:

• Improving information given to people with muscle-wasting conditions so that they are better informed
• Improving patient satisfaction in their treatment
• Improving overall quality of life, particularly reducing the potential psychological impacts of living with a muscle-wasting condition.

Following the two day workshop this week, Muscular Dystrophy UK will continue to collaborate with the European Neuromuscular Centre to:

• Create a white paper that will summarise discussion from the event and support organisations to share the best practice that is decided on locally
• Publish the workshops outcomes in relevant European neuromuscular journals
• Present the outcomes at various European conferences in the coming year

Taking part in this workshop session is part of Muscular Dystrophy UK’s Mental Health Matters project. The project has been created to ensure that individuals and families living with muscle-wasting conditions receive mental health and wellbeing support both from Muscular Dystrophy UK and the NHS.

To find out more about the European Neuromuscular Centre workshop or Muscular Dystrophy UK’s Mental Health Matters project please get in touch with our Campaigns team: campaigns@musculardystrophyuk.org

This Wednesday January 17 Muscular Dystrophy UK were invited to the All Party Parliamentary Group on disability to discuss the Improving Lives Green Paper. The Green Paper outlines the Government’s proposals on how they will get one million more disabled people into work in the next five years. The APPG was hosted by Disability Rights UK at Portcullis House and Chaired by Dr Lisa Cameron MP.

The meeting was attended by representatives from the Department of Work and Pensions who answered questions on plans to take forward the Disability Confident scheme and increase the role of employers in the disability employment gap. Ideas put forward included making it easier for young disabled people to get apprenticeships and requesting that private companies bidding for contracts employ a certain quota of disabled people.

Trailblazers were represented by Isabel Baylis and Emma Vogelmann from Moving Up who enjoyed hearing what steps will be taken to get more disabled people into work.

Employability Officer Emma Vogelmann said:

There was a lot of good discussion at the APPG on how to encourage employers to be more welcoming to disabled people. The feedback I’ve had from my young disabled people working group on employment is that employers often have no knowledge or experience of disability therefore they don’t know how to respond when a disabled person shows up for an interview.”

A potential new access scheme has been announced today which could see patients with SMA able to gain access to vital treatment, Spinraza, earlier than expected.

About Spinraza

Spinal muscular atrophy (SMA) is a devastating condition which, in the most severe cases, leaves babies with a life expectancy of rarely more than two years. Spinraza has been developed by pharmaceutical company Biogen and is the first and only treatment for people with SMA. It was approved by the European Medicines Agency in June 2017. Clinical trials showed significant improvement in children’s motor function, allowing them to achieve, or maintain, physical milestones that they would never reach without treatment, and to survive longer than expected considering the typical course of the condition. Some who would never have sat independently have been able to and some have been able to crawl and even walk.

Spinraza was shown to be so effective in clinical trial that Biogen agreed to provide the drug to all children with Type 1 SMA showing symptoms before six months of age through an expanded access programme. However, the scheme only provides the treatment for a percentage of the potential beneficiaries of Spinraza and is not sustainable as a long-term solution.

NICE appraisal

In the longer term, the availability of Spinraza will be determined by the National Institute for Health and Care Excellence (NICE), who assess and recommend treatments for access on the NHS. Yesterday, NICE started their appraisal of the SMA treatment, Spinraza, for all types. NICE are now looking at the treatment via the Single Technology Appraisal route. This is designed to assess drugs for both clinical and cost effectiveness and is usually used for more common conditions. As such, we are concerned that this route is not set up to assess rare disease drugs, like Spinraza.

We would expect guidance produced by NICE to be followed in Wales and Northern Ireland. Scotland has a standalone system, the Scottish Medicines Consortium (SMC), and the SMC are currently carrying out a consultation about Spinraza.

Managed Access Agreement

However, there is some promising news. Biogen have announced that they are in discussions with NICE and NHS England to put an interim access scheme in place. Known as a Managed Access Agreement (MAA), the scheme could see more people with SMA able to access the life-changing treatment while further data and evidence are gathered over several years.

Details of the scheme are not yet known. Muscular Dystrophy UK have joined forces with other SMA charities, including SMA Support UK, The SMA Trust and TreatSMA, in urging NICE, NHS England and Biogen to implement the scheme as quickly as possible. We are also calling for a review of NICE’s current appraisal structures to prevent avoidable delays for future treatments.

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

While we wait for the interim scheme to be implemented, the clock ticks away for those affected by this devastating, life-limiting condition who desperately need access to this treatment.

 

An interim scheme, which looks at making Spinraza available in the short term, is welcome. We must, however, address the problems with the current system for approving rare disease drugs.

 

A longer-term solution needs to be found. We need a more appropriate assessment route for rare disease drugs like Spinraza, which fall between NICE’s appraisal routes for new treatments.

What does this mean for families?

The prospect of an MAA is welcome news for families affected by SMA, who still face an anxious wait while Spinraza is considered for long-term delivery on the NHS by NICE. Without further intervention, the treatment is unlikely to be made available to families who could benefit from it, despite its proven track record.

Liz Lockley, 35, from Welwyn Garden City, Hertfordshire, whose son George (age 6) has SMA Type 2, but has not received treatment, said:

When George was diagnosed with SMA, our lives changed forever.  SMA is a cruel condition.  As a parent, it’s heart-breaking to see your child gradually lose their physical abilities, particularly when it happens in parallel to their twin brother gaining new skills every day.

 

While Spinraza is not a cure, it could help George maintain some of the strength he has left and could potentially enable him to gain new skills. Even if Spinraza could give George the ability to cough effectively, the SMA would no longer be such a threat to his life.  Simple things like having more arm strength could enable George to live a much more independent life.  This would be invaluable to us and, more importantly, to George.

What happens next?

We know that time is key and are anxious that Spinraza should not be subjected to any delays during the NICE assessment process. Please help us push for the MAA to be implemented as soon as possible by writing to your MP and asking for their support.

• Download MP template letter.

You can find your MP's contact details on the Parliament website. 

To contribute to our SMC submission then please email on the details below.

Muscular Dystrophy UK will continue to work with other SMA charities to call for a longer-term solution to ensure Spinraza and other future treatments get to patients as quickly as possible.

AveXis is expanding its spinal muscular atrophy (SMA) clinical development programme for its gene therapy drug, AVXS-101. The drug utilises a harmless adeno-associated virus to deliver a healthy copy of the SMN1 gene into the body.

AveXis is currently testing AVXS-101 in two US-based clinical trials, STR1VE and STRONG. These are assessing the safety and efficacy of the drug in individuals with SMA Type 1 (STR1VE) and Type 2 (STRONG). The company has recently announced plans for three new trials to further evaluate AVXS-101:

STR1VE EU: is a European trial that is intended to provide evidence for marketing approval by the European Medicines Agency (EMA). This is known as a pivotal trial. The trial is designed so all participants will receive the gene therapy and natural history data will be used as a comparator. It is expected to enrol 30 babies with SMA Type 1, who are less than six months old at the time of treatment. In addition to safety, the efficacy of the drug after a single intravenous infusion will be assessed. Outcome measures include the achievement of developmental milestones and the time from birth to an “event”, which is defined as either the requirement of permanent ventilation or death.

SPRINT: is a multi-national trial that will evaluate AVXS-101 in pre-symptomatic babies with SMA Type 1, 2, or 3. The trial is expected to enrol 44 babies with either two, three or four copies of SMN2 and who are less than six weeks of age at the time of the gene therapy treatment. The study will evaluate safety, participant survival and motor milestone development after a single intravenous infusion of AXVS-101.

REACH: is a multi-national trial for participants who do not qualify for other AVXS-101 trials. It is expected to enrol 50 participants between six months and 18 years of age, with either SMA Type 1, 2, or 3. Participants will receive a single intrathecal (spinal) injection of AVXS-101.

AveXis plans to initiate STR1VE EU and SPRINT in the first half of 2018, and REACH in late Q4 2018 or early 2019. The company will provide further information at the time of initiation.

Further information

Read AveXis’ press release

Visit our Clinical Trials Information Service

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