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.

The intern

This story first appeared in the Information Point newsletter Our World in 2017 when Allie Welter told the Information Point about the internship she had recently completed at the Beggs Laboratory in Boston.

Allie Welter is a biochemistry/molecular biology major in her junior year at University of Wisconsin – Eau Claire. Allie’s brother Andy is diagnosed with X-linked myotubular myopathy and she recently completed an internship at the Beggs Laboratory in Boston, one of a number of research labs which study the condition. Below Allie writes about her internship and her studies.


I became a biochemistry/molecular biology major because I have always been very interested in genetics and this major gave me the opportunity to take lots of classes within that field. My interest in genetics comes from my younger brother Andy. Genetics has always been a huge part of my life because of him.

At Eau Claire, I work with the plant Arabidopsis thaliana, specifically with enhancer mutations that cause the plant to be hypersensitive to red light and grow really short. Right now, we are currently mapping where these mutations are in the genome in hopes to learn more about these mutations effects on the plant. I got involved in research my first semester of my freshman year, since I am a Blugold Fellow (an opportunity which allows Freshmen to work on special projects or collaborative research). I reached out to Dr Gingerich, who is an associate professor in the Biology department, after reading about some of his projects to see if he had openings in his lab and have worked with him ever since.

Being involved in undergraduate research has helped me in my lab classes at the university, since I have learned some of the skills already from my research lab. Going into my internship in Boston, I noticed I picked up on new lab skills and techniques easier because of my research background and what I learned during my undergraduate research experience with Dr Gingerich. Since I had already learned basic genetic techniques, it allowed me to focus on learning new skills and build off of what I already knew.


In Boston, I spent the summer working with Dr Alan Beggs studying congenital myopathies, or muscle disorders that mostly involve the skeletal muscles. I introduced myself to Dr Beggs at the MTM-CNM family conference and talked to him about how I was interested in research and genetics in the future, then when I was looking for internships, I reached out to him to see if any opportunities were available to work in his lab and he remembered me.

It wasn’t actually too difficult for me to get the internship, since Dr Beggs had already met me several times at family conferences and knew that I would work hard in this lab. It put me a step ahead of other people applying for this internship because I wasn’t afraid to introduce myself and talk with Dr Beggs at these conferences.

People are often surprised at how I seemed to land this internship ‘easily’ but it was through maintaining a professional relationship with a researcher. Networking is huge in science and making connections with professionals, who can provide great opportunities like this one, opened me up to a great experience. I enjoyed interning in a lab that studies a specific disease too, since it’s easier to dive into specific topics and not just focus on general themes that you often do in university lectures.


In the Beggs Lab I got to work with animal models including zebrafish and mice, which was out of my comfort zone since I work with plants in Eau Claire. It took me some time to get used to working with an organism that actually moves, but it definitely got easier with time. My favorite part of this internship was the variety of things I got to try and learn while there. I got to help with a CRISPR/Cas9 gene editing project with zebrafish, monitor the progress of mice with one of the muscle mutations after it received a new gene therapy treatment, create myoblast/fibroblast cell cultures from mouse dissections, along with improving my skills at other basic genetic techniques such as PCR and agarose gel electrophoresis.

I learned how to use some different equipment that we don’t have at Eau Claire, like a cryostat, which makes thin slices of tissue that you put on microscope slides to stain and observe. This was exciting to use because a cryostat is a machine I had only read about in my textbooks, and I never thought I would learn to use one on my own this summer.


The internship was a great experience, as I got to interact with current graduate students and hear about their experiences, learn from Ph.D.’s about how they got to where they are today, and build connections with other interns. At first, I was nervous going all the way to Boston for an internship, since I knew nobody directly in the city, but I learned a lot from adapting to living in a big city and making friends/connections around Boston.

The internship reassured me that I am in the right field and got me excited for my future career. As of right now, I am planning on going to graduate school to either get a masters or Ph.D. in a biochemistry/biomedical program and would like eventually to work in or have my own research lab in the future. For women considering a STEM major, I would say do not let the fact that it is looked upon as a male dominated field scare you away. If you have the passion, take opportunities and open yourself up to new experiences, you can find success no matter what your gender.

Brewing for Beggs


Erin and Mark Ward’s son Will is diagnosed with myotubular myopathy. In 2016 they told The Information Point about the fundraising event ‘Brewing for Beggs’ which raised money for the Beggs Laboratory Congenital Myopathy Research Fund at Boston Children’s Hospital. 

Brewing for Beggs.

For the past 11 years, our son Will has partnered with Boston Marathon runner Kate Maul, in the Miles for Miracles program through Boston Children’s Hospital. For several years, Kate, her husband Tim Maul and fellow marathon runner and friend, Gretchen Wilson, have specifically designated their marathon fundraising to the Beggs Lab in honor of Will.

This year, they held their second special fundraising event called ‘Brewing for Beggs’ which took place on April 3 2016 at Hopsters in Newton, MA. Guests that attended got to experience making their own brew, drinking some brew and learning about the important work happening at the Beggs Lab. Dr. Alan Beggs and Casie Genetti, of the Beggs Lab, attended the event. It was a fantastic event for a great cause.

Left to right: Gretchen Wilson, Kate Maul, Alan Beggs, Casie Genetti and Will Ward.

Through this event and additional fundraising, Kate, Gretchen, and Tim, all ran the 2016 Boston Marathon and collectively raised over $10,000 towards the Congenital Myopathy Research Fund for the Beggs Lab. We are grateful for their efforts for the MTM-CNM community on behalf of their partnership with Will.

Further information

Together even stronger: European Family Conference

On a weekend in May 2016, the fourth European Family Conference for Myotubular and Centronuclear Myopathy took place in Germany.  Below the organisers Myotubular Trust and Zusammen Stark! write about the event.

On a May weekend full of sunshine and hope, over 100 participants gathered together near Frankfurt in Germany for the fourth European Family Conference for Myotubular and Centronuclear Myopathy. There were 45 families represented from 12 countries, and 16 researchers from Germany, France, Holland, UK, US and Canada. The conference was presented in both German and English with simultaneous translation via headsets.


The weekend began with a beautifully colourful spectacle when everyone released a balloon and a wish into the sky. This was followed by a relaxed and happy get together over dinner and drinks. On Saturday, conference delegates heard about the latest developments in research findings, as well as other studies and initiatives in the field of centronuclear and myotubular myopathy. We were so fortunate to have had such great support from the academic community and their presentations were greatly received.

Parachute game

On Saturday afternoon and Sunday morning there was a series of workshops on topics that ranged from Pre-Implantation Genetic Diagnosis, Firefly adapted toys and seating, outcome measures for clinical trials and updates from Audentes Therapeutics on the studies they are currently recruiting for and progress towards human clinical trials for gene therapy.

Photo frames

Children and teenagers had a chance to enjoy a programme especially organised for them on Friday, Saturday and Sunday. They were able to play together with other children inside and out. Afterwards their beautiful faces were painted as tigers, dinosaurs, pirates or beautiful butterflies, they made funny pictures of themselves or other children and then made lovely photo frames for those pictures. A very funny puppeteer made all children laugh with a silly lama, a hilarious donkey named Caruso and with the monkey Charlie. Children were also able to act with real actors to play Red Riding Hood, with a big grandma with the huge ears and mouth. Older children enjoyed playing soccer and going on a treasure hunt.

We also had a rolling demonstration of the re-launched Myotubular and Centronuclear Myopathy Patient Registry which is now managed by TREAT-NMD at Newcastle University. There were lots of opportunities over the course of the weekend for families to connect, for the children to play (and play and play) and for friendships to be strengthened and made. We are delighted to share with you some of the photos, presentations and extracts from the day below which we hope you will find enjoy.

Zusammen Stark! handing over a donation of 10,000 euro to the Myotubular Trust.

Zusammen Stark! were able to hand over a donation of 10,000 euro to the Myotubular Trust that shall contribute to this year’s call on research projects on centronuclear myopathies.

Myo the turtle and sunflower seeds.

Sunday was Mother’s Day in Germany and all mothers got a special present: sunflower seeds of The Big Sunflower Project for Centronuclear and Myotubular Myopathy 2016. We now hope that sunflowers will grow in all homes of all participants and with them the good hope and good spirit of the conference.


Further information

* View the conference book
* View conference photos

The conference presentations are now available on the Zusammen Stark and Myotubular Trust websites.

* Zusammen Stark e.V.
* Myotubular Trust

Myotubular Trust and Zusammen Stark! logos.

Myotubular and Centronuclear Myopathy Patient Registry (Accelerating the pace of research and treatment for MTM and CNM)

Jo Bullivant is the Registry Curator for the Myotubular and Centronuclear Myopathy Patient Registry. Below Jo writes about the latest release of the registry, why everyone diagnosed with centronuclear and myotubular myopathy should register and future plans.

Jo Bullivant

If you were able to attend the fantastic European Family Conference in Frankfurt this year, you may have already met me and heard the exciting news about the latest release of the Myotubular and Centronuclear Myopathy Patient Registry.

The Myotubular and Centronuclear Myopathy Patient Registry is an international patient database specific to this group of conditions. It was started in 2013 by our friends at the Myotubular Trust and recently they joined forces with our Registries Team here at Newcastle University, to take the project to the next level.

The registry currently has 156 members from across the globe; consisting of 126 patients and 30 female carriers. 11 of these are new registrations since we launched at the conference and of course we would love to see it continue to grow.

Why join the registry

The main purpose of the Myotubular and Centronuclear Myopathy Patient Registry is to make it easier to recruit patients for clinical trials. It does this by helping to identify suitable patients for particular trials and by contacting and informing them quickly when there is a trial they might be interested in.

The very existence of the registry can even encourage new research into these conditions, because researchers are made aware that there are already a number of patients who would be interested and easily contactable. This is why it’s important to get as many registrations as we can.

The registry can also be used to inform patients about new treatments that might be relevant to them, to provide scientists with important information about the prevalence and course of the conditions and to give doctors up-to-date information on managing the conditions; helping them to deliver better standards of care for their patients.

The registry data is managed independently here at the John Walton Muscular Dystrophy Research Centre at Newcastle University in the UK. This means it is not linked with any patient organisations or other databases and it is protected under the Data Protection Act 1998. It gets encrypted and stored on a secure server and if we publish or share any data, all personal identifiable information is removed.

What’s new about the registry

Now open for new registrations
Registrations are now being accepted from patients and from parents or guardians of patients.

More control over your own data
New patients registering will get a password protected account so that they can log back in to update or check their information at any time (if you have already registered on the old system, a username and password will be generated and sent to your email address).

Built-in consent
No need to print large patient information documents, or sign consent forms by hand and send back by post. Everything is online.

Don’t have all the information to hand straight away?
No problem, just save your details and complete the rest when you’re ready.

What’s coming next

  • Opening soon for new registrations from female carriers of x-linked myotubular myopathy (XLMTM)
  • Online consent and registry questions will be available in English, German, French, Italian or Spanish
  • Option for your doctor or specialist to check or upload information on your behalf

You can read more about the Registry and join now by visiting the registry website.

* Registry website

If you have any questions or comments, please feel free to send me an email at

The Myotubular and Centronuclear Myopathy Patient Registry logo.

10 years, 10 miles, 10 bridges

In 2016 the Myotubular Trust celebrated their 10th anniversary. To mark the occasion, the Trust hosted a 10 mile sponsored walk, taking in 10 of London’s iconic bridges, beginning with Tower Bridge and ending at Wandsworth Park. Below Anne Lennox from the Myotubular Tust writes about the event.

10 bridges image

A 10 mile sponsored walk over 10 of London’s most iconic bridges. 147 people. Seven families with myotubular or centronuclear myopathy with us.

Walkers flew in from Germany, Australia, Holland and Italy … some just for 24 hours. And over £30,000 raised for research.

What a great, great day. We were so thankful for the company, support and fantastic fundraising of everyone who joined us.

A special thanks to the London black cab driver, Mr Tony O’Brien, wherever you are, for refusing to take payment for your fare when the photographers jumped in your cab.

Further information

* View photos from the event
* A potted history of the 10 London bridges

Participants at the 10 bridges walk

Myotubular Trust 2016 film

In 2016 the Myotubular Trust launched a film to mark 10 years of fundraising and to say thank you to all those who have supported the charity in the 10 years since the charity was founded and made it possible to fund promising, pioneering research, bringing ever closer the possibility of a cure for those diagnosed with centronuclear and myotubular myopathy.

Please take a few minutes to watch the short film which explains about the work they do.

This film was made with the kind sponsorship of Tradeweb.


An earlier film made in 2007 can be viewed below.