The hottest London Marathon temperatures ever recorded failed to deter 114 runners who took to the streets for Muscular Dystrophy UK on Sunday. Guinness World Record contenders and first-time runners were among those who gave it their all to complete the 26.2 mile challenge in the 24 degree heat.

A gnome, a dalek and an eagle also ignored warnings from the organisers to reconsider wearing fancy dress in the sweltering conditions, delighting the thousands of spectators who turned out to watch the event.

The first person over the line for Team Orange was mechanical design engineer Chris Finister, 44, who finished in three hours 11 minutes – beating his London Marathon personal best. He said: “My partner Liz has muscular dystrophy and I’m good friends with Martin Hywood, who has LGMD, so I really wanted to support his fundraising work. “It was hot but it was OK. A lot of people were collapsing at the end – they got as far as collecting the bags and then just went down. “Going over Tower Bridge was amazing, because that’s the biggest support area, and the MDUK cheerers gave me such a boost. It just lifts you up so much.”

Tamsin Neligan, 26, works for an IT consultancy in London. She was one of the fastest women running for MDUK, finishing in three hours and 56 minutes. She said: “It was great, really good fun. The crowds were amazing, but it was very, very hot. I would have liked to have beaten last year’s time, but it just wasn’t going to happen in this weather.”

Adam Smith, a 45-year-old Lawyer from Witney, was angling for a Guinness World Record as the fastest mythical creature to run by taking part dressed as a gnome on a toadstool. He said: “I think it would have been hard even without a costume, but running with it was awful. It was so warm.

For the first mile I felt fine, and then it all went downhill. “I saw people collapsing and decided not to overdo it, so I ended up doing a mixture of walking and running. I finished in five hours five minutes, so I was way off the record of four hours. I will just have to try again another time!”

He said that his costume was inspired by a gnome reserve that he and his family, four of whom have been affected by myotonic dystrophy, used to visit.

Ben Lacey, 31, from Swindon, completed the marathon in four hours 12 minutes dressed as a falcon after making a bet with colleagues at his publishing company.

He said: “At a team building event I took part in a falconry display that went disastrously wrong when the falcon mistook me for prey. "My colleagues wouldn’t let me forget it, so I told them if they doubled their sponsorship from the last time I ran the marathon, I would do it again this year dressed as an eagle. “My dad has Charcot Marie Tooth and he wasn’t doing the physiotherapy that he was supposed to, so in his 50s he had to have a series of operations on his ankles.

“It was the worst case of the condition that the specialist had ever seen, but we got some really good advice from MDUK and now he’s improved so much he’s planning to do a London to Brighton bike ride. “I’ve run the marathon for the charity before, but I came back to do it again to say thank you for that advice. It’s an amazing charity, and everyone they help is extraordinary.”

Summit Therapeutics has announced it has completed dosing participants in its Phase II PhaseOut DMD trial. The 48-week trial, is assessing the safety and efficacy of their utrophin modulator, ezutromid, in boys with Duchenne muscular dystrophy. Participants who have opted to join the extension phase of this study are continuing to receive ezutromid.

Summit previously reported positive results from their 24-week interim data. The company plan to report preliminary results from their 48-week data during Q3 of 2018.

For more information please read Summit’s press release.

Throughout 2018 Muscular Dystrophy UK is working to support health professionals to deliver best-practice care for people with neuromuscular conditions.

Below is an overview of next week’s West Midlands Respiratory Study Day as well as as our online ELearning modules.

West Midlands Neuromuscular network: Respiratory Study Day

Next week, Muscular Dystrophy UK will be holding an upskilling day for health and care professionals working with children and adults with neuromuscular conditions.

The event will be held on Thursday 26^th April at the Eaton Hotel, Birmingham, B16 9NB 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 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

You can register to attend this event and find out more here.

Allied Health Professionals module

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, and 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 a person with a muscle-wasting condition as well as where to go if they need more specialised support.

Other resources

The Allied Health Professionals module is just one of the training courses provided by Muscular Dystrophy UK.

Existing resources include 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. 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 training opportunities for health professionals working with people with muscle-wasting conditions please get in touch with our Campaigns team at campaigns@musculardystrophyuk.org or on 0207 803 4826.

Solid Biosciences has announced that the FDA has allowed the high-dose group to be included in the IGNITE DMD trial. However the trial remains on hold because of a potential safety concern. The first trial participant had a reaction to the gene therapy, though this was resolved with medical treatment. He is now reported to be doing well.

For more information, read Solid's community letter and press release.

Last month Muscular Dystrophy UK held our annual conference for care advisors and clinical nurse specialists in Bristol. The conference, which was attended by 41 care advisors and specialist nurses as well as Muscular Dystrophy UK's six regional advocacy support officers, is a chance to hear updates on best-practice care and share thoughts on care improvements that Muscular Dystrophy UK and health professionals can make by working in partnership.

The conference ensures health professionals are provided with the best possible support to improve healthcare and services for people with muscle-wasting conditions.

At the conference this year health professionals hear presentations from expert speakers on:

• genetic counselling
• supporting families emotionally
• emergency care planning
• transitioning patients
• assistive technology
• clinical trials
• physiotherapy research

As well as developing knowledge in these important areas to better support individuals and families living with muscle-wasting conditions, attendees also established key priorities to work in partnership with muscular Dystrophy UK to improve healthcare and support in the UK. The key issues to emerge from these workshops were:

• emerging treatments and capacity of centres to administer them
• providing adequate respiratory care, particularly non-invasive ventilation (NIV)
• local support in the community and participation
• access to welfare and benefits
• recruitment of specialist health professionals at centres
• covering large geographical areas with a disparity in services

Muscular Dystrophy UK will continue to work with health professionals to ensure these issues improve in the UK. Some of the work currently ongoing surrounding these topics includes:

• our FastTrack campaign has been set up to improve access to emerging treatments and the capacity in neuromuscular centres
• our Right to Breathe campaign is in place to improve access to respiratory care
• our in house advocacy team are available to support individuals and families affected by muscle-wasting conditions to access the correct financial support

To find out more information about how Muscular Dystrophy UK work in partnership with health professionals to improve care, or for support on any of these issues please get in touch with campaigns@musculardystrophyuk.org.

After the Beast from the East had forced the round four fixtures in March 2018 to be postponed, we're pleased to see the MDUK Premiership back in action this weekend. This week will see those postponed fixtures being played ahead of next weeks finals weekend. Lots at stake, and we're delighted to have Lewis Hammans from Brighton & Hove Albion PFC to tell us a bit about himself and what he's looking forward to this weekend. Over to Lewis...

Name: Lewis Hammans

Age: 19

Team: Brighton & Hove Albion PFC (BHAPFC)

Position: Winger

 

Being able to play powerchair football gives me excitement and allows me to be on the same level as others similar to me. It allows me to feel the pressure and challenges that any athlete my age would feel. As a Brighton fan to be able to play in the colours of my team, gives me such a good feeling.

 

It's been a great season so far and my moment of the season would have to be when I scored against Northern Thunder. It was a set-peice move which we had practiced in training and the feeling you get when you have scored a goal which you have practiced is just amazing. This enabled us to win the game and get three points to help us with the total at the end of the season.

 

As a team our ambitions for the rest of the season are to move up that one place and to win the league. As a team we know this is a tough ask because we would have to get maximum points to not rely on other team results. However, we need to just focus on one game at a time. For me personally it would be nice to finish as the top goalscorer at the end of the season, although this is not as important as the team goals are what it is all about.

 

For the next weekend we are hoping to get maximum points, to help us with a late push for the title. Although we know this will be a challenge as we have some difficult games, which if we don't perform to our best we could struggle.

 

The key game for BHAPFC would have to be against Northern Thunder, they are a really good side who can pass the ball well and are defensively very strong. We know from earlier in the season that we have the ability to beat them, which gives us confidence for this match. It should be a very good battle as both teams have a good free-flowing game which can make a game very entertaining to watch.

Pfizer has announced the first participant for its US-based gene therapy trial, was recently dosed at Duke University Medical Centre. The trial is assessing the gene therapy (PF-06939926) in approximately 12 boys with Duchenne between the ages of 5 and 12 who are still able to walk. PF-06939926 uses an adeno-associated virus  to carry a shortened version of the dystrophin gene (mini-dystrophin) into the body.

In addition to safety, the trial will also assess if PF-06939926 is able to increase dystrophin protein levels and improve muscle strength. Preliminary data from this trial is expected in the first half of 2019.

For further information, please see Pfizer's community letter and press release.

Spinraza is the first and only treatment for people with spinal muscular atrophy. Below is a summary of some of the recent activity we have been involved in as part of our fight to make sure all people with SMA have the option of accessing this treatment.

Scottish Medicines Consortium submission

In February we sent in our submission to the Scottish Medicines Consortium (SMC). The submission focussed on patient testimonials about the impact of SMA, the lack of available treatments and the hope presented by Spinraza. In March, we headed to Glasgow with SMA Support UK and SMA Trust to support two parents, Sheonad and Kathy, at the Patient and Clinician Engagement (PACE) meeting. Both of them gave powerful testimonials about their own experiences of having a child with SMA and why they believe Spinraza should be approved. Earlier this week, we attended the SMC Committee meeting where presentations were made about the case for Spinraza to be approved. Following the presentations and discussions we were asked to leave the room whilst the committee voted in private on the availability of Spinraza in Scotland. We expect to hear the outcome of the vote in early May and will update people as soon as we know the result.

NICE submission

In January, the National Institute of Health and Care Excellence (NICE) began its appraisal of Spinraza. NICE is 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. Throughout the process we have worked with the other SMA charities to make sure the patient voice is kept at the heart of the process. We made our submission to NICE in March. As with our submission to the SMC, the focus of our submission to NICE was on testimonials from people affected by SMA

Meanwhile we are still waiting for more detail about the potential Managed Access Agreement (MAA) for Spinraza. An MAA could see more people with SMA able to access the life-changing treatment while further data and evidence are gathered over several years.

Expanded Access Programme

There was good news in March when NHS England agreed to fund all children with SMA Type 1 (diagnosed by seven months) to receive Spinraza via the Expanded Access Programme. This is really positive news for those people who have been missing out until now. Special thanks go to Professor Francesco Muntoni who has fought tirelessly for this.

Finally, we would like to thank everyone who has shared their stories with us as part of this process. We will continue to work with SMA Support UK, SMA Trust and TreatSMA to fight for access to Spinraza for all people with SMA.

Ministers are to consider a number of key Trailblazers Up in the Air campaign asks, including space for disabled toilets on aircrafts and priority storage for wheelchairs.

The Government are also considering the ability for wheelchair users to take their wheelchairs onboard the plane and travel in it.

Trailblazers went to the Flying Disabled Symposium last year, and have seen the prototype model of plane which would allow wheelchair users to travel in their wheelchair with comfort and dignity.

Aviation minister Baroness Sugg said

“We have to do everything possible to ensure passengers are put at the very heart of our aviation industry and the flying experience is a positive one for everyone boarding a plane.”

Our investigation, Up in the Air, into the accessibility of the air industry was sparked by repeated reports of disabled passengers receiving a second-rate service from airlines.

In 2008, legislation was introduced by the European Union to protect the rights of disabled passengers flying in and out of Europe. However, it has been 10 years since the regulation was implemented, and our investigation reveals that disabled passengers still regularly encounter barriers to a smooth and pleasant travelling experience.

Although some disabled passengers have had good experiences, most disabled passengers believe there is much that the airline industry needs to do before it catches up with other mainstream modes of transport.

Our report revealed:

• Six out of ten disabled passengers say their wheelchairs have been damaged when travelling with an airline.
• Six out of ten disabled passengers said they felt unsafe when they transfer from a wheelchair to an airline seat.
• Almost half of disabled passengers feel that airline staff who lift and carry them do not provide a good service.
• Nine out of ten wheelchair users are unable to use airline toilets and therefore have to avoid drinking before or during flights.

Trailblazers Campaigns Officer Michaela Hollywood said:

“We welcome this news from the Government.

Many of our Trailblazers have told us of the frustrating difficulties and lack of dignity they experience when flying. The difficulties start from booking tickets until you return home, impacting on the whole journey and experience.

Wheelchair users being able to travel in their own wheelchair is the ultimate goal, but in the interim the use of Eagle Lifters bridges a gap.

Trailblazers are committed to improving air travel for disabled people, and we look forward to continuing this work.”

You can read our report on air travel here.