An interview with Jim Dowling

During a trip to Canada, Wendy Hughes, one of the founders of the Myotubular Trust, took the opportunity to interview Dr Jim Dowling at Hospital for Sick Kids, Toronto.

wendy1

In the interview, Dr Dowling explains the science behind his work, why it looks so promising and the difference that funding makes to him. He also discussed his work, his research funded by the Myotubular Trust and potential treatments in the pipeline.

You can find the podcasts on the Myotubular Trust website.

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.

Balloons

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.

#TogetherEvenStronger

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 mtmcnmregistry@treat-nmd.eu.

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.

Tradeweb

An earlier film made in 2007 can be viewed below.

Tubie Friends

This article about Kyle, first appeared in a 2015 issue of The Information Point newsletter Our World, when his grandmother Darlene, told us about the organisation Tubie Friends. 

tubie2

Tubie Friends was started by a group of mothers in the USA whose children have been or are currently using a feeding tube as a primary source of nutrition and knew, that when a parent is told their child needs a feeding tube or other medical equipment, it can be a scary time for the entire family.

Kyle Miller is 13 years old and lives in Maryland, USA. Diagnosed with X-Linked myotubular myopathy, Kyle has had a trach and feeding tube since he was one month old. He recently received a Tubie Friend as a gift from his grandmother Darlene.

Darlene told The Information Point ‘I found out about Tubie Friends animals on Facebook via another group I belong too. They match a Tubie Friend to each child based on information you provide, such as if they have a trach, feeding tube or pic line’.

‘Tubie Friends are important for children like Kyle as they can connect to them. They give the child a sense of enjoyment knowing other people think about them and try to make things feel natural to them. Kyle’s Tubie Friend was a surprise, he didn’t know I had ordered him one until it came. On receiving it he said “Hey, this dog has a trach and g-tube just like me. This is really awsome”. It was the first time he has gotten something that was so much like him and it makes him feel special. He tells everyone that comes to our house look what I got in the mail’.

‘Kyle named his Tubie Friend Frenchy. The stuffed animal came with a card saying he could choose a name and also the name of the person who had fixed it for him. Kyle names all his things after things he likes. His pet dog’s name is John Deere (JD for short) and he likes french fries – as he was eating them at the time the Tubie Friend arrived it was only natural he name him Frenchy’.

As much as possible Tubie friends mirror a child’s medical interventions to the animal they are receiving, by placing a similar feeding tube, as well as additional medical interventions such as central IV lines, tracheostomy tubes or oxygen cannulas if possible. Additionally, each Tubie Friend comes with a parent letter providing information and listing support groups for feeding tubes.

Tubie Friends were initially intended for people with medical devices and who are developmentally under the age of 18. However, in addition to bringing comfort to a child, Tubie Friends can also be used as a teaching tool for family, friends and caregivers and can be purchased for adults, schools, siblings, caregivers and doctors also.

Myotubular Trust European Family Conference

This article first appeared in a 2014 issue of The Information Point newsletter Our World. The third Myotubular Trust family conference had taken place in London over the weekend of Saturday 12 and Sunday 13 July 2014.  On day one of the conference 100+ people including affected families and individuals and researchers from 16 countries descended on the Holiday Inn in Bloomsbury to meet and exchange views, hear from the leading researchers and discover some of the latest ideas about how to manage the condition, while day two saw families and researchers who attended the conference gather once more to take part in the London 10k to raise funds for research. 

Researcher speaking at conference. Jong, Onessa and Elijah.

After the conference The Information Point spoke with a number of conference attendees, about what attending the conference meant to them. Barbara Wuebbels, Vice President of Patient Advocacy and Medical Affairs at Audentes Therapeutics, also wrote a report about a focus group held by the organisation at the conference.

Neil and Ginny.

Neil

My name is Neil Martin and I am 46 years old. I have two children from my first marriage, Abbie who is 17 and Christopher 15, also I have two stepchildren Alastair 26 and Georgena 18 who are my partner Ginny’s children. I am marrying Ginny on August 1st next year. I was born in Bishop Stortford in Hertfordshire but I now live in Westbury in Wiltshire. I work for Silcoa in their offices, my job I really enjoy.

I was diagnosed 20 years ago with MTM, after a muscle biopsy and we believe it is the recessive form but I have been left on my own to cope with the condition. The consultant in Royal United Hospital Bath said there was nothing he could do for my condition and for me to just get on with my life. I felt very alone although my sister has the condition too.

Up until a week before the conference I didn’t know of the Trust. I receive emails regularly from the Muscular Dystrophy campaign which usually I just delete, however on this occasion I opened the email and noticed in the bottom right about the Myotubular Trust family conference. I then read this with interest and emailed Melanie Spring, who was very helpful and I asked for two tickets for my partner Ginny and myself.

I was very skeptical, however on the Friday night when we arrived at the hotel we met a few families who made us so welcome and part of the big family. On the Saturday morning we were greeted and made to feel part of the conference. On entering the conference room we met Barbara and her husband who we had a good chat with. We then sat on a table at the front of the room and met a lovely couple Kim and Frank from Holland. Kim has myotubular myopathy and her condition is very similar to mine. When Kim coughed I said that ‘sounds just like me coughing’ and after the conference and over dinner we had a long conversation about ourselves and found that we had many things in common.

Throughout the day I learnt so much from all the guest speakers and it has given me hope. Although this was my first conference it will not be my last. Also Ginny and myself are planning to do some fundraising to help the Trust. I do not feel alone now but part of a large family who are there for all of us. If I had one wish it would be to walk down the aisle at my wedding next year.

Erin and Will.

Erin

Erin Ward traveled from the US to attend the conference. Erin’s son Will is diagnosed with x-linked myotubular myopathy.

Erin told the Information Point: I was so happy to have the opportunity to attend the 2014 Myotubular Trust Conference. The Myotubular Trust did a phenomenal job putting on such a rich learning opportunity and experience for families and researchers in the community.

I enjoyed having the opportunity to meet new families from many different countries and to participate in international collaboration with the Myotubular Trust team, as a team member from the US Family Conference. We look forward to continuing to build our collaborative efforts for our global family community in the future.

Toni

Toni

In July I attended the third Myotubular Trust family conference in London. I have been to all the conferences to date and as previously it was completely amazing to have the opportunity to attend.

One of the lovely things for me having attended before is witnessing the changes taking place every two year’s, from its beginning at the Victoria and Albert museum, to this year’s event, big enough to be held in a conference room of a London hotel, with people from around the world attending the event. It was also good to catch up with people I have met before as well as meeting people for the first time.

When my father and I were first diagnosed with centronuclear myopathy we were told we had the rarest and mildest form and that we were unlikely to find anyone else in the world with the condition … well the internet changed all that and for me, it is very comforting to be able to sit in a room full of people affected by the same family of conditions as dad and I, some of whom are similarly affected and who understand the issues that I face. Also, being able to listen to researchers as they speak about the huge steps being made towards finding a cure for the conditions. I remember being blown away at the first conference by what I saw and heard and again at the second conference and this year it was no different. Not only are the researchers smart but they communicate the research in an easy to understand way, using humour and slideshows and they do it all in a language which is often not their first language … incredible.

This year I also particularly enjoyed listening to the presentation by Martin Plowman of Dreams Come True, who helped one of our community several years ago, get their son born in Portugal, home to the UK. How wonderful to be able to tell people your job title is Director of Dreams and to be able to fulfil the dreams of children like those affected by centronuclear and myotubular myopathy by sending them to Disneyland or in the case of one dream recipient, waking up to find her dream of cows outside the window had become a reality.

Once again I left this years conference with a spring in my step, feeling positive, hopeful and excited for the future, as I am sure many more did too. What a fabulous way to make people feel. Anne, Mel and Wendy – thank you once again for a fabulous event and being generally all round good eggs.

Elina and Walter.

Elina

I am Elina Grate and my son Walter was born this April. When I found out after my son Walter’s biopsy that he has x-linked myotubular myopathy, I googled the diagnosis and found out about the Myotubular Trust and the coming conference. I immediately wrote a letter to Melanie Spring and have received very warm welcome and invitation to attend the conference.

Being only case in the country (Latvia), it is very valuable to know that I am not isolated and have all the information I need to manage the condition and meet the same parents from our community. I met fantastic parents, kids, researchers, organisers and felt very warm attitude towards me and my boy. After the conference I regularly communicate with parents and Melanie Spring and feel lucky that I’ve joined this big family and being updated of all scientific progress as well.

After the event I returned to the hospital to my boy and all the medical staff made inquiries about conference topics and I felt really proud to educate them of the condition. I feel inspired by the examples of parents and kids set, the dedication of researchers and great organisational and supportive work of foundation.

Holger with Mai-Lis and Anne Lennox from the Myotubular Trust.

Holger

Our son Emil was born on February 19 of this year in Stuttgart, Germany. Immediately after his birth, Emil was transferred to the intensive care at the Olgahospital in Stuttgart. There, doctors and nurses struggled for his life. After two months, the doctors had convinced us to agree on a triple surgery: tracheotomy, PEG tube and muscle biopsy. On the day after the surgery, we had a diagnosis: Emil suffers from MTM.

We were very sad and felt very lonely. However, only one day after the diagnosis, Jen found the information about the Myotubular Trust. To our surprise, there was this conference taking place just this year. I registered and got even invited by Audentes Therapeutics to take part in the focus group meeting on the day before the actual conference. How lucky we are. At one moment we thought we were all alone and by the next days we found out that there were others that would share their experience with us and that there was even substantial research going on to find a cure for that very rare disease.

In the focus group meeting I had the chance to discuss with several members of Audentes. I learned a lot about the possibilities and possible risks of the approach. We were about 8 – 10 parents from the UK, Norway, the Netherlands who were asked as group first how our situation was, how we got to know about the condition of our sons and what were our expectations on a possible remedy. I was the one with the youngest son and for me it was great to listen to the parents that had already so much experience. All had made it; all lived their lives with the condition found several ways to cope with it. It gave me a lot of confidence and hope that we would be able to do so too. I got a lot of practical advice from the moms and dads.

On the day of the conference this experience continued. I learned that there were even two more approaches to heal MTM. It was really good to talk with the parents and researchers during the breaks. I saw the kids playing in the other room and imagined that Emil will be there the next time also.

Isla and tortoise.

Claudia

When I initially found out about the family conference this year I wasn’t sure whether I could attend …… I attended the last conference which I found very informative and inspiring but this year would be the first one after losing my son Will to the condition in 2012.

I decided to be brave and I attended with my husband and my five year old daughter Isla (Wills twin) and I’m so glad we did. It was so exciting to hear how much progress has been made towards a cure from some very clever people. It’s really quite amazing to think that a cure is on the horizon and it brings us comfort in knowing that one day in the not too distant future we can give other very poorly boys like Will the freedom to live a normal life. It also offers us comfort for Islas future as we don’t know if she’s a carrier yet.

The conference itself was organised and held in a very warm and sensitive way whilst also providing us with an insight into the research that has been going on behind the scenes, thanks to all those who have been fundraising for the charity. I very much look forward to the next one.

Luke and Anna.

Clair

My name is Clair, mum of Luke Tierney who has X linked myotubular myopathy. This was our first year of attending the family conference and it was through the brilliant fundraising that we were able to have a room at the hotel and attend this year and we are extremely grateful for that.

So myself, Paul, Luke and our daughter Anna headed for London on the train with excitement. We were so looking forward to meeting everybody and swapping stories with each other and about our world of MTM, as well as finding out any other vital information. And my goodness we were not disappointed, we all had a fantastic time with everybody, the conferences were so informative and we enjoyed learning about the gene therapy, something we were not really understanding before, so it really helped us to understand what was going on in the community.

Anna and Luke had a fantastic day also playing and talking with the other children, Luke actually said he was amazed that other children looked like him and it was nice to see other people like him. Anna said of the day ‘I feel normal here, like I’m not the only one that worries and cares for their brother so much’. It really helped her to see other older siblings helping out with feeds and suction etc, she said ‘it’s something that I wouldn’t really talk about with friends as they don’t get it’.

So the day was a huge success, we were all looked after so well, with entertainment, food and drink – it was brilliantly organised and we’re so glad we attended this year and look forward to the next one.

Parent focus group meeting

Focus group meeting.

Audentes Therapeutics, with the help of the Myotubular Trust, hosted the first of several focus groups centered on their gene therapy treatment for X Linked myotubular myopathy (XLMTM), on Friday 11 July, the day before the Myotubular Trust Family Conference. This was the first of several focus groups centered on their gene therapy treatment for X Linked myotubular myopathy. Parents of young children with XLMTM ranging in age from four months to twelve years participated in the meeting.

The goals of the meeting were for Audentes to gain a better understanding of the impact of the disease on the child and their family within their home and community. The group also shared their thoughts on desired benefits they would like to see from a new medication to help their child.

Key reflections expressed from the parents included:

* the time to diagnosis can vary from birth to several years of age
* transition from hospital to home took long periods of time to arrange
* families may be socially isolated for many reasons, including the concern regarding exposing their children to infections
* numerous practical considerations, such as the need for electrical source for ventilators, customised van for electric wheelchair access and limited handicap friendly facilities
* homes may need to be remodeled to provide handicap access and in house transfer of patients
* professional nursing care may be needed multiple hours every day
* the frequency and severity of respiratory infections, and anxieties about ventilator failure are major concerns for parents

Rare disease medicines development companies frequently host these meetings to help them bridge the gap between the textbook picture of a disease and the reality of living with the disease. Parents provide critical information about the physical, emotional, and social impact of the disease on their lives and those of their affected children. This information is helpful to companies in planning and designing clinical trials and in particular in helping to understand relevant outcomes to measure.

The assistance of the Myotubular Trust in promoting the focus group, reviewing attendee applications and coordinating logistical arrangements was invaluable. Most importantly, the willingness of the parents to share their personal stories was extremely impactful and helps inform the clinical development plan immeasurably.

Another XLMTM parent focus group meeting is planned later this year, which will be held in the US. Further focus groups will take place during the course of next year and we look forward to continuing to collaborate with the Trust and with families.

Further information about the conference can be found below.

* Overview of the conference
* Photos from the conference
* Family conference feedback form

Titin mutations cause centronuclear myopathy

This story first appeared in the Information Point newsletter Our World in 2013, when Sarah Foye, Lindsay Swanson, MS, CGC and Elizabeth Torosian told the The Information Point about the discovery that mutations in the Titin (TTN) gene can cause centronuclear myopathy.

As you may know, the congenital myopathies are a group of inherited disorders (passed down from parent to child) that affect the structure of muscles. The class of myopathies known as centronuclear myopathy (CNM) have historically been named due to the muscle cells appearance under the microscope. The nuclei of muscle cells affected by CNM tend to be found in the center of the cell, unlike in healthy muscles where the nucleus is found on the edge of the cell. These internalized nuclei are what give CNM it’s name, but there are several genes known to cause various forms of CNM. These genes are MTM1, DNM2, RYR1, BIN1 and TTN however some genes still remain unknown.

New gene discoveries are taking place as muscle disorder researchers learn more about CNM and more technologies become available. One new technology being utilized in the research lab of Dr Alan Beggs includes whole exome sequencing (WES) and whole genome sequencing (WGS). These new technologies, which can be less expensive than traditional genetic sequencing, allow researchers to look at larger chunks of the human genetic code.

Using this technology, the Beggs Lab, along with a group of collaborators, discovered that mutations in the Titin (TTN) gene can cause CNM. Titin, the largest known protein in the human body, is coded by the TTN gene. It is a structural protein that acts as a molecular spring within the muscle cell, as seen in the drawing to the right. Although Titin has long been known to be a structural protein within the muscle cell, examination of the gene TTN has been limited due to it’s gigantic size. However, the use of new genetic testing methods like WES and WGS have allowed researchers to understand more about Titin and the TTN gene. You can read more about this in the article below.

Beggs et al, used the new genetic testing methods to screen a group of subjects who were diagnosed with CNM by muscle biopsy but tested negative for mutations in all genes known to cause CNM. Through this process, they identified that TTN mutations were likely the genetic cause in five individuals with CNM. You can read more about this in the article below:

However, there still remains a large category of people diagnosed with CNM whose genetic cause remains unknown. With new gene discoveries and new technologies, it can be expected that people can jump from the ‘unknown’ category into a category with a known gene. New clinical testing can help ease the diagnosis by testing for many genes simultaneously. The University of Chicago Genetic Services Laboratories is now offering a state of the art test in which multiple congenital myopathy genes can all be tested at once. Known as next generation sequence genetic testing. This type of testing is faster and cheaper than prior testing methods. This panel includes the TTN gene. If you or a family member have been diagnosed with MTM or CNM but never had a genetic mutation identified or confirmed through a clinical lab, please consider discussing this with your doctor or a genetic counselor.

One final point to note is that TTN mutations are known to cause a heart problem known as adult onset dilated cardiomyopathy. This can have important clinical implications for people who may have CNM caused by a TTN mutation and may be another important reason to have the genetic testing done. Additionally, any person with heart problems and a congenital myopathy may strongly consider TTN as a possibly cause.

International collaboration

Since 2011 the Myotubular Trust has been funding a grant to Dr Jocelyn Laporte at IGBMC in France to use next generation gene sequencing technology to find some of the other genes that cause myotubular and centronuclear myopathy. Jocelyn Laporte says ‘The team in Strasbourg is supported by Myotubular Trust to identify genes linked to myotubular and centronuclear myopathies using the novel genome sequencing approach. Due to this support the lab were able to participate to an international collaborative study that culminated in the identification of mutations in Titin in patients presenting with centronuclear myopathy. Titin is the largest protein of the human body and acts as a molecular spring during muscle contraction and relaxation. Other families with centronuclear myopathy that have previously eluded genetic diagnosis may turn out to be linked to this same gene. Researchers can now use this finding to better establish diagnosis and understand how these myopathies occur’.

The discovery of the Titin protein’s role in this condition is a great example of the power of international collaboration between leading neuromuscular research teams. This is really good news for our community

Genetic testing

If you have been diagnosed with myotubular myopathy but have never had your MTM1 mutation identified of confirmed in a clinical laboratory, you may want to consider enrolling in the MTM Genetic Testing study.

For European patients, where the culprit gene has not been identified via genetic testing, retesting can be requested via a clinician, as most diagnostic laboratories in Europe are currently validating these novel sequencing technologies. In Europe, such a request for re-testing must be made via a clinician, rather than directly to a laboratory and testing is free in some countries.