Myotubular Trust news

The Myotubular Trust 2020 grant call

The Myotubular Trust 2020 grant call is now open and scientists from around the world are invited to apply for a research grant.

Medical research image.

The goal of their work must be to help find a cure or treatment for any of the forms of myotubular and centronuclear myopathy. Read more about the grant call below.

Completed applications must be received by 5pm on Friday 26 June 2020. It is anticipated that awards will be made in early September.

UK patient webinar

On Saurday 4 July 2020, Myotubular Trust will be hosting a patient update webinar.  Join in from the comfort of your own home, using a computer, tablet or phone.

Speakers on the day are:

  • Professor Francesco Muntoni, Professor in Paediatric Neurology and UK Investigator for ASPIRO the gene therapy trial
  • Professor Ros Quinlivan, Consultant in Neuromuscular Disease and Investigator for UNITE-CNM, the antisense therapy trial
  • Dr Giovanni Baranello, Honary Consultant in Paediatric Neurology/Neuromuscular Disease and UK investigator for the Tamoixfen clinical trials

Topics will include:

  • Covid 19 in neuromuscular disease patients – what’s been learnt
  • Clinical trials update – the latest on gene therapy, antisense therapy and drug repurposing trials in the UK
  • Questions and answers from the patient community

You must register if you would like to attend. Please email melaniespring@myotubularmyopathy.org to receive a personal Zoom invite and instructions on how to join.

Further information

For further information about this event visit the Myotubular Trust website.

Webinar announcement.

Myotubular Trust logo

The Big Sunflower Project (mid year report)

2020 is the tenth year of The Big Sunflower Project and a milestone event for the little project, which originally was only meant to last for one year.

Dwarf sunflowers growing in wellington boots.

Obviously, no one expected the coronavirus situation and in March seed distribution was suspended.  We tentatively re-started in April and during late April and early May, were able to get some final batches of seeds safely in the post. Recipients included children currently home from school, schools that remained open to the children of key workers, a charity that supports people recovering from homelessness and addiction, a specialist worker for the Early Help and Prevention Service, an allotment project for children and adults with additional support needs, Enable Scotland (a charity which works with people who have learning disabilities), a residential home for older people with dementia and a hospital caring for a child with myotubular myopathy.

Sunflowers growing at Westminster Primary School.

Our intention at the beginning of the year had been to distribute 300 packets of seeds and we now know of over 290 people participating in the UK, on the Isle of Man, France, Greece, Germany, Sweden,  Australia and the Philippines, so we are feeling a tiny bit proud of ourselves for getting so close to our target at this difficult time. 238 places are currently plotted on the project map which can be viewed below. Click anywhere on the map to open it up and click a sunflower to learn about the people growing sunflowers in a particular location.  If you are growing sunflowers but cannot see yourself on the map, please ask to be added. As always, we wholeheartedly welcome anyone who grows sunflowers to take part in the project, even if they did not obtain their sunflower seeds from us.

In addition to posting seeds out, seeing as we had been thrown a curve ball, we decided to do a few things differently this year too.

Earlier in the year the project received a large donation of vegetable seeds. During the first three months of the year, these were sent together with sunflower seeds, to anyone who applied to the project and advised they had an allotment or stated they wanted seeds for a gardening club but from late April onwards, we began to give away our sunflower and vegetable seeds locally and we planted dwarf sunflowers, peas, cucumbers and runner beans and gave small plants away too.

Free seeds and plants.

Secondly, we decided to send seeds to schools we knew were still open for the children of key workers.  We thought being a small person with all this chaos going on right now, together with not being able to be with your friends and watching your parents go off to work each day must be quite a scary time, so decided to send a few surprise packages to schools, in the hope it would bring some cheer, make the children feel a bit special and give them something to look forward to – hopefully staff and parents would get some enjoyment from seeing the sunflowers too. It has been very lovely to hear from some of the schools and other recipients that the seeds and plants have been well received.

Jen and Holger planting sunflower seeds.

ZNM-Zusammenstark! e.v. 

This year the project is once again being joined by ZNM-Zusammenstark! e.v. growing sunflowers in memory of Emil, who was diagnosed with myotubular myopathy and sadly passed away in 2016.  Founded in 2015, ZNM-Zusammenstark! e.v. is a German association for those affected by centronuclear and  myotubular myopathy. Visit their website to read what they have to say about being part of The Big Sunflower Project.

Bear watering sunflowers.

In the news

The project has received some lovely publicity this year which can be read below and we are incredibly grateful to those who have taken the time to write about what we do.

Sunflowers growing at Spitalfields Crypt.

Resources

If you are  using your sunflower seeds for educational purposes, fundraising events or would like to raise awareness of centronuclear and myotubular myopathy at the place where you are growing your sunflowers, you can download flyers from the resources area of the website. You will also find resources for teaching children and to start conversations about equality and diversity.

Make a donation

The Big Sunflower Project is an initiative of The Information Point for Centronuclear and Myotubular Myopathy. The aim of the project is to raise awareness of the rare neuromuscular conditions known as centronuclear and myotubular myopathy, by sending seeds to people who have never heard of the conditions and requesting photos in return, which are shared in the Information Point newsletter and on the project social media pages, again raising awareness of centronuclear and myotubular myopathy. There is no charge for project seeds or the cost of postage, the project does however, welcome donations to ensure the future of the project and to enable seeds to be sent to as many people as possible each year. If you have donated for your seeds, thank you. If you would like to donate, you can learn more about how to do this below.

Our friends

This year project seeds have been donated by Thompson and Morgan and Tamar Organics. Seeds were also donated by Mike Rogers, Linda Fowler and Flower Power Lymo who grew sunflowers during the 2019 project and saved their seeds.

We are also grateful to everyone who has donated to The Big Sunflower Project since 2011, enabling us to celebrate our 10th anniversary.  You can read about these people below.

Looking forward to seeing everyone’s sunflower photos over the summer. Until then  stay safe everyone.

Planting sunflower seeds in Birkenhead.

Further information

Further information about the project can be found on The Big Sunflower Project website and on social media, where photos can be shared using #TheBigSunflowerProject. Use #centronuclear, #centronuclearmyopathy, #myotubular and #myotubularmyopathy to help raise awareness of centronuclear and myotubular myopathy too.

 

Powerwheelchair for Milosz

Milosz lives with his family in Market Harborough, Leicestershire and is diagnosed with X-linked myotubular myopathy. Over the last six months Milosz’s needs have changed and he now requires a specialised powered wheelchair.

Milosz

Milosz’s manual wheelchair has become too small to him and the back support is no longer efficient. In addition, Milosz had developed mild scoliosis which requires specialised back support. And while Milosz can self propel his manual wheelchair indoors, he relies on people to push him on longer journeys outdoors. As a pre teenage boy, Milosz craves some freedom and a powered wheelchair would enable him to be more independent.

Milosz’s family began the process of arranging for a power wheelchair in September 2019, applying for one through a charity but due to coronavirus, the charity were unable to fund all of it and organising fundraising events at this time is difficult, so the family are now aiming to raise the £6,700 needed themselves, before Milosz starts secondary school in September.

Stanley

Milosz’s friend Stanley is helping to fundraise also, by running a marathon. Starting on 26 May Stanley began running a mile every day for 26 days and is aiming to raise £2,000.

Could help fund this essential piece of equipment for Milosz? Please visit the websites below to learn more and donate.

Dynacure news 2020

Clinical trial recruitment

Unite-CNM, the Dynacure sponsored clinical trial of their antisense product, DYN101, began recruiting in early 2020 at sites in the UK, Belgium and Netherlands, with an additional five European sites to follow.

Pre-clinical studies have shown that ‘turning down’ Dynamin 2 can reduce the symptoms of centronuclear myopathy, so the clinical trial will evaluate DYN101 for safety, tolerability, pharmacokinetics (how the drug works around the body) and preliminary efficacy (the effect on symptoms). It will include approximately 18 patients, who are over 16 years of age and have XLMTM or DNM2 mutations.

Further information about the trial, including inclusion and exclusion criteria, site location, recruitment status and contact details can be found below.

March 2020

Dynacure announces first patient dosed in phase 1 / 2 ‘UNITE-CNM’ Study of DYN101 for the treatment of centronuclear myopathies 

In March, Dynacure announced that a patient had been dosed with DYN101. This milestone marks the first time any company has dosed a CNM patient with an antisense medicine.  For further information view the press release below.

April 2020

Dynacure Announces €50M ($55M) Series C Financing

In March, Dynacure announced €50M ($55M) Series C Financing. The funding will support ongoing Phase 1 /2 ‘Unite-CNM’ study of DYN101 in patients with centronuclear and myotubular myopathy.

May 2020

Dynacure announce that circulating myostatin levels are altered in centronuclear myopathy mice and patients and myostatin levels respond directly to DNM2-therapy in mice. Myostatin is now currently being explored as a biomarker in our Unite-CNM clinical trial.

 

Dynacure logo.

Female carriers of X-linked myotubular myopathy invited to join a new study

A new European study, led by Dr Nicol Voermans of Radboud University Medical Centre, The Netherlands, is looking into the possible muscle symptoms in female carriers of myotubular myopathy. The study is keen to recruit as many female relatives of boys and men with x-linked myotubular myopathy as possible, plus manifesting and confirmed female carriers too.

Bhawana with Wendy and Anne from the Myotubular Trust.

Dr Voermans has a special interest and expertise in congenital myopathies and the study team consists of Professor Ulrike Schara, Essen (Germany), Professor Heinz Jungbluth, London (UK) and Dr Carsten Bonnemann, NIH (USA).

This study concerns all female relatives of boys and men with the x-linked form of myotubular myopathy whether symptomatic or not, including grandmothers, mothers, sisters, aunts and cousins, with the aim being is to visualise the entire spectrum of symptoms in carriers.

The study consists of a number of digital questionnaires which you can fill in at home. A possible follow up of this study will be performed in the future, when the coronavirus situation allows it. The follow up would consist of some simple neurological tests.

The results of the study will give a better understanding of the disease and improve the health care for female carriers. In addition, it can contribute to clinical trial preparedness.

To be able to participate in this study, you must be 18 years or older and you must be able to fill in the digital questionnaires. This study is currently limited to Europe.

If you are interested in participating and would you like to receive more information about this, email congenitalemyopathie.neuro@radboudumc.nl to express your interest.

Hospital

On 12 March 2020 an episode of the programme Hospital featured Hari, a child diagnosed with myotubular myopathy. The programme followed Hari’s story and was about situations that cause hospital beds to be blocked.

Hari with dad Michael and mum Ellen.

For the last ten years, NHS staff have been working to meet the ever-rising demand of patients coming through the front door but increasingly, there is another pressure – after they admit a patient to hospital and have treated them, how and when will they get them out again?

With NHS ‘bed blocking’ numbers at their highest level since 2017, for those who are medically fit to leave, multi billion pound cuts to social and community care services have left a shortage of care home beds, equipment, staff and housing, effectively stranding these patients in hospital. With a duty to oversee safe discharges, this leaves the NHS no choice but to keep these medically fit patients in hospital.

Nationally every year, 330,000 patients are staying in hospital for more than 21 days. To the NHS, these people as known as ‘super stranded’. Hari is one of these patients.