In 2018 Muscular Dystrophy UK will continue to support health professionals to deliver best-practice care for people with neuromuscular conditions.

Below is an overview of the work that we will be undertaking to ensure better knowledge and support is available to health professionals that will lead to care improvements.

Online training modules

Muscular Dystrophy UK is working in partnership with specialist clinicians to develop an online training module which will support community health professionals to improve their knowledge of muscle-wasting conditions.

The new Allied Health Professionals module will be launched in summer 2018. The module will be an online resource for health and social care professionals who work with individuals and families affected by muscle-wasting conditions but who do not have any specific neuromuscular expertise.

Nurses, occupational therapists, staff working in wheelchair services, as well as teaching and educational professionals, are amongst the professionals who will benefit from tailored courses prepared by leading neuromuscular specialists.

After completing the module, which health professionals will have to pass a test to complete, participants will have more knowledge of the basics on treating someone with a muscle-wasting condition, as well as where to go if they require more specialised support.

This module follows the launch of our ELearning module for physiotherapists which has helped more than 1000 physios working with adults with muscle-wasting conditions to provide best-practice care for the people they support. In addition, our GP ELearning module has also been taken by over 1,000 GPs, and provides doctors with support around the diagnosis and practical management of people with muscle-wasting conditions.

If you would like further information on the resources we have available for health professionals please get in touch with our campaigns team at campaigns@musculardystrophyuk.org  or on 0207 803 4826.

Respiratory study day

In April, Muscular Dystrophy UK will be organising an upskilling day for health and care professionals working with children and adults with neuromuscular conditions.

The event will be held in Birmingham and is part of our campaign to ensure all people with neuromuscular conditions have access to best-practice respiratory care.

Attendees will be able to choose from a range of practical workshops on offer across two rooms. There will also be an opportunity for case discussions, enabling health professionals to receive expert advice on respiratory care issues from leading clinicians.

The day will include:

• Gold standards of care for neuromuscular disease for children and adults
• Emergency and advance care planning for people with neuromuscular conditions
• Using a Mechanical Insufflator-Exsufflator (MIE) for people with neuromuscular conditions
• Case discussion
• Gold standards of care for neuromuscular disease for children and adults

Further details of this study day will be made available on our events page.

East of England workshop

On Friday 2^nd March the East of England network is running a workshop in Newmarket for people working with children and young adults with neuromuscular conditions in this region.

The day will include:

• Managing Duchenne muscular dystrophy (DMD) in real world: case studies and discussion to include ASD, comorbidity, sleep and behaviour.
• Research updates
• The Challenges of Managing Young Adults with neuromuscular conditions; case studies and discussion on a regional approach

Further details can be found on our events page. To book your place please contact Kathryn Oakes at kathryn.oakes@addenbrookes.nhs.uk

Belfast neuromuscular study day

On Thursday the 1^st of March we are supporting the specialist neuromuscular team in Belfast to hold a training day for local physiotherapists and occupational therapists

Topics covered include:

• an overview of the main neuromuscular conditions
• respiratory care
• equipment and adaptations
• MDUK support and resources

To register your attendance, please RSVP to Kim Conlon by email at Kim.Conlon@hscni.net or by telephone on 028 95 363420.

Muscular Dystrophy UK has worked in partnership with specialist health professionals to create 16 condition-specific alert cards. The cards allow people with muscle-wasting conditions and their families to easily inform paramedic teams of the vital and specific issues which affect their care.

Since the launch of the Duchenne muscular dystrophy alert card in late 2014 we have sent out over 12,000 cards to people living with muscle-wasting conditions and health professionals.

These cards offer a vital safety net to individuals and their families, supporting them to relay information to the emergency services, ensuring the right care is provided in what can be a highly stressful situation.

We have been speaking to people affected by muscle-wasting conditions about why their alert card is important to them, their stories are shared below:

Michaela Hollywood, Trailblazers Campaigns Officer, who has Spinal Muscular Atrophy (SMA), explains why she wouldn’t be without one of Muscular Dystrophy UK’s alert cards:

Having access to my alert card means that I do not need to repeat important medical information.  I have often been asked repeatedly by medical staff why I should not have oxygen, how to spell my condition and to explain what it is.

My alert card takes the pressure off me so that I can focus on staying calm and getting better.

 All the emergency staff I come into contact with know what they should and shouldn’t do in an emergency.  I would not be without it now!

Cathi Bertin, from Lochgilphead, Scotland, writes about the experience of her friend with Duchenne Muscular Dystrophy (DMD):

I’m the friend of a young man living with Duchenne. He now requires 24 hour care but prior to this went out on his own in the community.

The alert card enabled this to happen, as he knew if he was alone in the event of an emergency paramedics could be provided with information about his care needs. This was a great reassurance to him and his family and friends.

As well as our alert cards, we’re working to improve emergency care for people with muscle-wasting conditions through our Ambulance Action campaign. This aims to encourage ambulance trusts across the UK to set up a flagging system that alerts paramedics and first responders that the person they are treating has a neuromuscular condition and allows them to access individualised care plans before they arrive on the scene.

Muscular Dystrophy UK has already worked with the London Ambulance Service to set up a flagging system and by June 2018 we are aiming to ensure that similar systems are in place in at least three more regions of the UK. We have already held productive meetings with ambulance services in Northern Ireland, East Midlands, and the South East Coast region, and by March will have met with another four trusts.

If you would like to share your experience of emergency care, or would like us to send you an alert card, then get in touch with David Stephenson at d.stephenson@musculardystrophyuk.org  or on 020 7803 4826.

Acceleron Pharmaceuticals has announced preliminary results from its phase 2 trial testing ACE-083 in adults with facioscapulohumeral muscular dystrophy (FSHD).

ACE-083 is a drug that inhibits a family of proteins that negatively regulate muscle growth (including myostatin). This approach aims to build muscle mass and improve muscle strength.

The trial is split into two parts:

• Part 1 is a dose-escalation study. This was designed to identify the highest and safest dose of ACE-083 in adults with FSHD. Participants were divided into three dose groups (150mg, 200mg, 250mg), and received injections of ACE-083 into either the upper leg (tibialis anterior muscle), or the upper arm (biceps brachii muscle).
• Part 2 is a randomised, double-blind, placebo-controlled study. This will start once Part 1 is complete. The best dose from Part 1 will be tested in Part 2.

Acceleron has released data from the 150mg and 200mg dose groups in Part 1. Overall the drug was well tolerated and no serious adverse events occurred.

Magnetic Resonance Imaging (MRI) was used to quantify the volume of the targeted upper leg or upper arm muscle. This was carried out before treatment (the baseline) and three weeks after the last injection of ACE-083.

The results showed that ACE-083 increased the volume of the upper leg by an average of 12.6%, and the upper arm by an average of 13.2%. The amount of fat in the leg and arm muscles also decreased.

While these results are promising, they are based on a small number of patients (23 in total) and there was no placebo to compare against. We also don’t yet know what effect ACE-083 has on muscle strength and function. This will be investigated in Part 2 of the study, which is due to start in the second quarter of 2018.

Dr Matthew Sherman, Chief Medical Officer of Acceleron, said:

These data support our decision to advance to Part 2 of the Phase 2 trial, which we expect to initiate in the second quarter of this year. We look forward to fully exploring functional outcomes in the larger, placebo-controlled Part 2 of the trial.

Further information

Get the latest FSHD research news

Visit our Clinical Trials Information Service

On Saturday 7 July 2018 three friends from East Yorkshire will set out to cycle from their home town to the Silverstone Formula 1 circuit, 165 miles away, in one day. Tom, Jase, and Simon are taking on this epic challenge in memory of Tom’s brother Josh, who passed away in May 2017 aged 27, having lived with Duchenne Muscular Dystrophy since diagnosis at age five.

Josh loved Formula 1; the teams, the cars, the drivers, watched every practice, qualifier and race in real time, to always be up to date. Relying on his mum as a full-time carer and with no real independence, Formula 1 was Josh’s life.

Unfortunately, Josh never made it to Silverstone, so now in his name and memory, Tom, Jase and Simon, who have been friends since primary school, have devised a route from where Josh lived in East Yorkshire to the Silverstone Circuit. They will tackle the 165 mile cycle in a single day on Saturday 7 July 2018, and attend the British Grand Prix the following day in honour of Josh’s passion for the sport.

The team aim to raise an incredible £5000 for Muscular Dystrophy UK, and are already well on their way to achieving this, an amount could fund over 100 hours of ground-breaking research into Duchenne Muscular Dystrophy and significantly help Muscular Dystrophy UK’s efforts to find a cure.

The Department of Health and Social Care and NHS England have published their implementation plans for the UK Strategy for Rare Diseases.

The Strategy, which was published in November 2013, contains commitments aimed at improving access to support and treatments for people with rare diseases such as muscular dystrophy and neuromuscular conditions.

Content of the Strategy

The Strategy covers five key themes which are:

• Empowering those with rare diseases
• Identifying and preventing rare diseases
• Diagnosis and early intervention
• Co-ordination of care
• Role of research in rare diseases

Actions to implement the Strategy

The Department of Health and Social Care and NHS England have set out how they plan to implement the Strategy, including:

• From April 2018, Government will introduce an Accelerated Access Pathway (AAP) that aims to streamline regulatory and market access decisions, getting innovative treatments to patients more quickly
• National Institute for Health Research (NIHR), through its INVOLVE programme, actively promoting and leading on activities to encourage greater patient and public involvement, engagement and participation in research
• identifying an individual to co-ordinate care
• emphasis on giving patients alert cards for their condition
• ensuring an active transition from paediatric to adult services

Implementation plans in Scotland, Wales and Northern Ireland have already been produced.

Muscular Dystrophy UK perspective

We welcome the publication of these plans and are keen to work with NHS England and Department of Health and Social Care to ensure their implementation. With an increasing number of potential treatments for muscle-wasting conditions it is critical that specialist centres are well-staffed and well-supported to ensure these new drugs reach those who desperately need them as quickly as possible.

A study from MDUK-funded researchers at University College London (UCL) and Royal Holloway University of London (RHUL) has been published in the scientific journal, EMBO Molecular Medicine.

Dr Francesco Saverio Tedesco from UCL worked in collaboration with Dr Linda Popplewell and Prof George Dickson from RHUL to develop an artificial chromosome containing the entire dystrophin gene. This was delivered into muscle stem cells from people with Duchenne and led to an increase in dystrophin production.

The dystrophin gene is one of the largest genes in our bodies, so is challenging to incorporate into a gene therapy. Artificial chromosomes overcome this problem as they have a much larger capacity than other vectors, such as adeno-associated viruses (AAVs).

In addition to dystrophin, the artificial chromosome in this study also contained genes that extended the life of the muscle stem cells. This helped to ensure that there were enough cells for transplanting, which is often a problem in cell therapy trials. The researchers also included other genes in the artificial chromosome for safety purposes. For example, there were 'suicide' genes that could be triggered if the cells started to grow out of control and risked becoming cancerous.

This sort of genetic and cell-based approach is often referred to as 'ex vivo' gene therapy. This is because the genetic correction takes place outside the body (ex vivo), in cells grown in the laboratory. These cells are then multiplied and injected back into the patient. In vivo gene therapy is when the genetic correction takes place inside the body (in vivo). For example, when a virus carrying a healthy copy of a gene is injected directly into a patient.

Dr Tedesco, who led the study, said:

Our recently published study demonstrates the principle of using Human Artificial Chromosome (HAC) technology as an ex vivo gene therapy for Duchenne muscular dystrophy. Notably, this strategy is not mutation-specific and therefore could be applicable to virtually all dystrophin mutations, including large deletions and those causing Becker muscular dystrophy. Although more research is needed to increase the efficiency of HAC-mediated genetic correction and to deliver the corrected cells to large areas of affected muscles, this work provides a foundation for future clinical development.

Further information

Read more about the study in this press release from RHUL

Find out about Dr Tedesco’s MDUK-funded project

Learn more about ex vivo gene therapy by watching this video

Today, the Committee for Medicinal Products for Human Use (CHMP) has returned a second negative opinion for the Duchenne drug Raxone. This is disappointing news for people with Duchenne muscular dystrophy who could benefit from Raxone.

Raxone is developed by Santhera Pharmaceuticals and is thought to slow the decline of respiratory function in patients Duchenne muscular dystrophy who are not taking steroids. In June 2017, Raxone was approved via the Early Access to Medicines Scheme (EAMS). However, in September 2017, the CHMP, provided a negative opinion for the use of Raxone in patients with Duchenne. Santhera resubmitted the clinical trial data again but the CHMP has delivered a negative opinion again.

Muscular Dystrophy’s UK’s Director of Campaigns, Care and Information, Nic Bungay, said:

This is disappointing news for the people with Duchenne muscular dystrophy who could benefit from Raxone. With no alternative treatment to help preserve respiratory function when steroids stop working, adults with Duchenne can struggle to cough and clear their airways.

Raxone offered many people with Duchenne hope when it was made available via the Early Access to Medicines Scheme.  We are in close contact with Santhera about what happens next for those patients in the UK currently receiving Raxone as part of the EAM scheme.  We will today write to the MHRA urging them to ensure that patients who are benefiting from the drug do not have it withdrawn.

Duchenne 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.

You can read more about the decision in Santhera's press release. 

Summit Therapeutics has released interim results from their ongoing PhaseOut DMD study. The 48-week phase 2 trial is assessing the safety and efficacy of utrophin modulator, ezutromid, in boys with Duchenne muscular dystrophy.

Muscle biopsies taken before treatment and after 24 weeks of treatment were compared. This showed that 14 out of 22 participants had a noticeable reduction in muscle damage. In addition, levels of the utrophin protein had increased.

The company also reported that ezutromid has been well tolerated to date. Initial results from the final 48-week time point are expected to be reported in the third quarter of 2018.

Professor Dame Kay Davies from the University of Oxford and co-founder of Summit said in a press release:

These data provide the first evidence of utrophin modulation working in patients. If further findings build on this evidence they could establish ezutromid as a universal, disease-modifying treatment and bring hope to all patients and families living with DMD.

Whilst these preliminary results are positive, it is not yet known if ezutromid will be able to improve muscle function. Summit is planning to conduct a larger, placebo-controlled trial that is intended to provide evidence for marketing approval (known as a pivotal trial).

The company will provide further information on their pivotal trial once PhaseOut DMD is completed.

Further information

Read Summit's community letter or listen to their webinar.

Visit our Clinical Trials Information Service

Get the latest Duchenne research news