Research award for Tamoxifen clinical trial in the UK

The Myotubular Trust has recently joined forces with Great Ormond Street Hospital Children’s Charity and Sparks, the children’s medical research charity to co-fund a clinical trial, following a joint research grant call in 2019.

Studies funded by Myotubular Trust grants between 2014 and 2016, discovered that Tamoxifen, an anti-cancer drug, can significantly improve the symptoms associated with x-linked myotubular myopathy. Tamoxifen also has the benefit of having low side effects in both adults and children. It is not costly, is widely available and is already being taken safely by children for a range of other conditions.

The aim of the grant award is to prepare for and run a clinical trial to test how well Tamoxifen works in improving motor and respiratory function. The trial will be led by Dr Giovanni Baranello, and Professor Francesco Muntoni, at the University College London (UCL) Great Ormond Street Institute of Child Health. If the study is successful, it could provide the first widely available therapy for myotubular myopathy, either as a stand alone treatment for patients not eligible for gene therapy or other treatments, or as a valuable additional treatment.

Funding the preparation

New research grants take time to get up and running, particularly when they involve the complexity of setting up a clinical trial team. Therefor Myotubular Trust has already made a second, separate grant to the great Ormond Street Hospital research team. This grant funds a clinical trial co-ordinator who is already working on the regulatory and ethical paperwork and processes to ensure that the trial can begin as soon as possible.

Current grant has already funded the work of identifying the dose of Tamoxifen

Before a clinical trial can begin in humans, work needs to be done to decide what dose of a drug will be both the safest to take and the most likely to work. The Myotubular Trust 2018 – 2020 grant to Dr James Dowling at Sick Kids Canada has already funded this ‘dose finding’ work, ready for the trial to begin both in the UK and in the US and Canada too.

For further information about this grant, visit the Myotubular Trust website below.

Myotubular Trust logo

Great Ormond Street Hospital Charity and Sparks logo.

European family conference 2018

Adults and children affected by myotubular and centronuclear myopathies, their families, doctors and carers attended a family conference jointly hosted by the Myotubular Trust and ZNM – Zusammen Stark in London, on 14 and 15 July 2018.

Highlights included research updates on gene therapy clinical trials, upcoming clinical trials using DNM2 down regulation, drug repurposing for x-linked myotubular myopathy, day to day care, tracheostomy management, latest best practice in respiratory care, genes and genetic counselling.

European Family Conference 2018

Myotubular Trust and ZNM logo.

London Hope Walk 2018

2018 was the tenth anniversary year of the Myotubular Trust London Hope Walk. The walk took place on Saturday 12 May and for the second year took in 10 of London’s iconic bridges, starting at London Bridge and finishing at Battersea Park.

London 10k map

The tenth year of the walk was very special and saw a great turnout with supporters old and new and a lot of families represented. This year 70 people took part and between us we added another 720km on the Hope Walk mile-ometer.

London 10k

Charity of the Year 2017

This article first appeared in the Information Point newsletter Our World in 2018.

When Christie & Co and Christie Finance decided to support a single ‘Charity of the Year’ in 2017, it was the first time that the company had focused its annual fundraising activity to a single cause.

The Myotubular Trust was a natural choice as Simon Hughes (whose son Zak has X-linked MTM) has worked for Christie & Co since 1987 so there was a strong personal connection. Simon’s colleagues at Christie & Co and Christie Finance had followed Zak’s 22 year journey since birth, also generously supporting the Myotubular Trust after it was founded in 2006 and regularly sponsoring the Myotubular Trust t-shirts.

Zak and Simon

Simon told The Information Point, ‘The idea was to raise as much money as possible over the course of the year by encouraging staff across the 16 UK offices to organise local fundraising events and despite most of them never having heard of myotubular and centronuclear myopathy, the initiative was immediately embraced by all. The profile of the ‘Charity of the Year’ was kept high throughout the year through regular email updates, articles in the company newsletters and mentions at internal meetings and conferences. Clients got on board too and were only too happy to support the fundraising events.

Christie and Co fundraising

We had walkers, runners, cake makers, raffles, dress down days and a variety of other things which in total raised well over £35,000. From the Company’s point of view, not only was it good to help fund the valuable work of the Trust but there was a real sense of teamwork in the successful completion of the various events.

My colleagues remarked how nice it was to fundraise for a charity where you could see a direct impact and difference being made with the money they raised’.

Christie and Co fundraising

David Rugg, Chairman of Christie & Co said ‘I am really proud of what our colleagues have done and are doing. Focusing our fundraising efforts for Myotubular Trust this year has unified the whole company, we are working successfully together in teams for a common, hugely deserving and worthwhile cause, which brings out the best in everyone.’

Further information

Learn more on the Myotubular Trust website.

Myotubular Trust launch new website

This article first appeared in The Information Point newsletter Our World in 2018.

Since 2006, the Myotubular Trust has lead the way in both supporting families and investing in research to find a treatment and a cure. In 10 years they have raised in excess of £1.85 million and funded 13 major research grants internationally.

The Trust recently launched a new website, available in all languages, which features a large area about research including information on trials and studies. There is also an area for families which includes family stories, information on getting a diagnosis and managing the condition.

You can visit the new website below.

New collaboration with Action Medical Research

This article first appeared in the Information Point newsletter Our World in 2017, when the Myotubular Trust wrote about their collaboration with the renowned children’s medical research charity Action Medical Research in a quest to find treatments for myotubular and centronuclear myopathy.

Since founding in 1952 Action Medical Research has been instrumental in funding medical breakthroughs. They have made groundbreaking changes in the health of children – from the first UK polio vaccines to developing the use of ultrasound technology in pregnancy.

Earlier this year we announced a joint project grant for 2018 for translational research into myotubular and centronuclear myopathy for project grants of up to three years’ duration, with up to £200,000 available to principal investigators at UK institutions with researchers from outside the UK able to collaborate on UK-based projects if appropriate.

We are honoured that this highly respected children’s medical research charity has chosen to partner with Myotubular Trust and that we are united in our desire to change the lives of those with myotubular and centronuclear myopathy.

Respiratory care in centronuclear and myotubular myopathy

In January 2017 the Myotubular Trust hosted a free NHS event aimed at all UK myotubular and centronuclear myopathy patients, their parent(s), carers and NHS healthcare professionals. The event was run in conjunction with the Royal Brompton and Harefield hospital and the University College London hospitals.


The event shared best NHS practice and experiences of managing MTM and CNM and  educated NHS healthcare professionals about potential treatments, with the aim of improving UK standards of care all for those affected by myotubular and centronuclear myopathy.

Attendees were also able to gain hands on experience of respiratory equipment, including ventilators and cough assist devices, learn the latest best practice in tracheostomy care and network with other UK patients, parents, carers and NHS professionals.


The Myotubular Trust Easyfundraising eStore raises funds for the charity everytime a purchase is made there. There are a wealth of shops to be found there, all of who make a donation, anytime you shop using the eStore link, at no cost to the customer. You can also raise commission if you are looking to say change your credit card, switch your energy provider or renew insurance.

On this page you will find stories from some of the stores supporters and if you would like to support the Myotubular Trust when shopping online too you can visit the eStore below.

Mike and Diane

Mike and Diane have been shopping online to raise funds to raise funds for the Myotubular Trust for many years now.  Mike regularly uses Amazon for buying cds and dvds, computer and electrical equipment such as computer components and has made larger purchases such as a video recorder and a television this way.

Diane shops at Marks and Spencer and has purchased concert and theatre tickets from Ticketmaster for concerts such as Michael Ball, Barry Manilow, Take That and musicals in Liverpool and Manchester.

Mike and Diane


I signed up with Easyfundraising a while ago to help benefit the Myotubular Trust as my son Zak is diagnosed with myotubular myopathy – but sometimes I forget that there is this really good online shopping facility where a little bit of my usual spend will be donated to a charity that is close to my heart.

I admit, a couple of times I have clicked straight through to the retailer, forgetting that if I get to them through easyfundraising it will automatically collect a small percentage of what I’m spending and donate it to Myotubular Trust. So now I have a large yellow post-it note stuck on my home screen to remind me to do it every time I online shop (alternatively, you can download the donation reminder which will remind you if a shop gives donations, so no need for a post-it note).

The Hughes family

Easyfundraising seems even better and easier to use than ever: it remembers who I am when I visit and there seems to be loads more high profile shops and retailers now signed up to make a donation to the Myotubular Trust whenever you spend with them. What I hadn’t realised is that there are travel companies signed up too – so I can make hotel and holiday bookings through these and benefit the Myotubular Trust.

The biggest plus for me about using this way to shop is that it feels so good knowing that I’m also helping Zak and others with myotubular and centronuclear myopathy – all out of the retailer’s profits. Knowing this has also helped me change my shopping habits too – choosing online buying if I don’t need things in a rush. So more often now, I will browse for things in the shops, take photos of the product label, have a little think about if they will suit/fit, etc and then buy them through this online facility.

I’ve recently asked my husband’s employers if they would be willing to make all their office purchases and travel/hotel purchases through Easyfundraising too. The good news is that they came straight back saying that they would be ‘very happy to’.  I didn’t feel guilty asking, as it’s not costing them anything more than they would already be spending on travel, etc.

If you aren’t already signed up – I would love it if you too could consider online shopping this way? If we all collectively remember to shop through Easyfundraising, just imagine how much we can raise to help our community … and all for the sake of remembering to make just one extra click on the computer. I hope you can discover a few bargains along the way too. Happy shopping and fundraising!


I love to shop, whether it be a gift for someone or a treat for me and I love Easyfundraising, shopping there regularly now for all sorts of things.

For those of you who don’t know, Easyfundraising is like a giant shopping centre … think the Trafford Centre in Manchester, Westfields in London or Liverpool One but online. However, unlike a regular shopping centre, all the shops within this shopping centre give a donation to the Myotubular Trust, whenever a purchase is made with them.

It isn’t complicated in the slightest … here’s the science bit. All you have to do to ensure your shopping generates a donation for the Myotubular Trust is visit the Myotubular Trust Easyfundraising cause page. Search for the retailer you want to shop with and you will be taken to a page which tells you what percentage of your purchase the retailer will donate when you shop with them. Click the ‘go shopping and raise funds button’ and hey presto you’re done. Your shopping will now result in a donation for the Myotubular Trust.

There are over 3,000 retailers to choose from and I now check Easyfundraising before I buy anything at all, as I love the special feeling I get on finding that my purchase will benefit the Myotubular Trust. Donations can vary from pennies to pounds … sometimes many pounds, say if you are booking a holiday, renewing your house insurance or switching your energy provider.


High street shops such as Marks and Spencer, Debenhams, Dorothy Perkins, Argos, Top Shop, Lakeland, Next and so many more can be found on Easyfundraising. Toiletries and makeup can be purchased from Boots and Superdrug. There are a number of book shops on Easyfundraising – I have used both Amazon and Waterstones but my current favourite is Book Depository as they don’t charge postage. I use Amazon when downloading music and if I want something a bit special I visit Not on the High Street.

And it is not only online that I am able to help as I have registered for in store donations too. Cafe Nero are one of the shops who pay a donation when people shop in store, so each time I buy a coffee on my way to work, I am able to help the Myotubular Trust too. If you shop at Officer’s Club or Blue Inc they give in store donations also.

So because both my dad and me are diagnosed with centronuclear myopathy and because I think it is very unlikely that I will ever take part in a fundraising event which sees me running a marathon or a 10k, climbing a very high mountain or swimming a very large sea, I think shopping with easyfundraising is a lovely way for me to help a cause so very close to my heart and when I see the donations mounting up, it makes me want to do it all the more. If you haven’t tried it and you or someone you know is affected by centronuclear or myotubular myopathy, I would urge you to try it too. The pennies raised quickly make pounds and many pounds equal research … and maybe one day a treatment or a cure for centronuclear and myotubular myopathy.


The Easyfundraising eStore for commission based charity shopping is a great initiative, and I love how easy it all is.

When our son Tom was alive, internet shopping was absolutely the only way I kept up with birthdays and Christmas as we never really got out to any big shops. Even if Tom was strong enough to go out, I only ever wanted to take him to places he would love like the park and playgrounds and friends’ houses – like all little boys he really wasn’t too keen on shops!

Since Tom died it has been very important to me to do everything we can to continue to fundraise for research into this condition – hence I spend all my spare hours working for the Myotubular Trust. It’s a busy but very rewarding time in our family’s life, and in our sadness at Tom’s absence we all know we’re doing something that makes a difference.

However I am always careful to make sure each of the children is just as important, and no matter how heartbroken or busy we’ve been over the years Christmas and each child’s birthday is a very special time. How great therefore to know that even when I’m buying presents it still makes a difference!

I know only too well how important every penny is to research, so it is immensely gratifying to click on those links, look after my living children’s Christmas, with one eye on the research that will give a future to other boys like their brother Tom.

German General Meeting and Family Conference 2017

The Annual General Meeting and Family Conference of the German association ZNM – Zusammen Stark! e.V (CNM – Together Strong!) took place over the weekend of 5 – 7 May 2017. Holger Fischer told The Information Point about the event.

This year our annual general meeting and family conference took place in the small village of Tambach in Thuringia, Germany. We were so pleased that 27 families from Germany and Holland participated in the meeting.

On 5 May we had our members’ meeting and we agreed to continue our support to the Myotubular Trust with a donation of 20,000 € to enable Myotubular Trust research grants to find a cure for myotubular myopathy and the other centronuclear myopathies. After 10,000 € a year ago and 15,000 € in January 2017, this time we increased the sum again by 5,000 €. We are grateful to all the donors who made this possible and to the great cooperation with the Myotubular Trust. Also in this meeting, the management board of our association was reelected for the next two years with Frank Schulte as treasurer, Tracy Ulmer as vice-president and myself as president.

German conference

In the morning of the next day we had presentations on several topics about daily-life therapies and social insurance issues. In the afternoon, there were interactive workshops on the topics of secretion management, Galileo vibration plate, clinical studies, self-determined life and fundraising. The presentation and workshops were extremely helpful because the members of our association got very useful information, counseling and helped each other.

In the evening we let balloons fly with good wishes and spend a beautiful evening with each other as a family. On Sunday, we all departed thinking about the next meeting that will take place next year. We hope to see you there again.


German conference