Newsletter for the Centronuclear and Myotubular Myopathy Community

Issue 2: 2018

The Big Sunflower Project

2018 was the eighth year of The Big Sunflower Project. Seeds were sent to places across the UK and people also took part in Germany, The Netherlands, Austria, Croatia, the USA, New Zealand and Costa Rica. For the second time the project was also joined by many people growing sunflowers in memory of Emil, who was diagnosed with myotubular myopathy and sadly passed away in 2016. Sunflower growing season is now over in the UK and the project end of year report can now be found on the project website.
 
End of year report

The Big Sunflower Project logo.

 

 


European family conference

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.

Further information and presentations

Family conference attendees.

ZNM and Myotubular Trust logo.

 

 

 

 

Audentes

ASPIRO the X-linked MTM clinical trial continues to report positive results.

May

The European Medicines Agency (EMA) granted Priority Medicines (PRIME) designation to AT132 for the treatment of X-Linked Myotubular Myopathy (XLMTM). The PRIME designation is intended to enhance interaction and early dialogue with developers of promising therapies, to optimize development plans and speed evaluation, so that these medicines may reach patients as early as possible.

 

August

Financial results for the second quarter, an update on ASPIRO, including muscle biopsy results from the first three patients treated in the study and the week 24 efficacy analysis for patient three were published.


The US Food and Drug Administration (FDA) also granted Regenerative Medicine Advanced Therapy (RMAT) designation to AT132 for the treatment of X-linked Myotubular Myopathy (XLMTM).

October

New positive interim data from ASPIRO was presented at the 23rd International Annual Congress of the World Muscle Society.

 


Dr Suyash Prasad Senior Vice President and Chief Medical Officer of Audentes was also interviewed by Cell and Gene Therapy Insights talking about gene therapy.
 

November

Third quarter financial results including an update on ASPIRO were published.  
 

Audentes logo.
 

 

US MTM-CNM conference

The next MTM-CNM family conference will be held in St Louis, Missouri, in July 2019. The conference will mark 10 years since the first bi-annual conference was held in Houston, Texas in 2009.  

The conference will provide the chance for families to hear directly from medical professionals, clinicians, researchers and pharma industry members, about the most up to date research and care practices, in one place, for one weekend, as well as providing the opportunity for families to directly collaborate with medical professionals, engage in ongoing research and meet with other families affected by myotubular myopathy.

Further information about the conference can be found in the MTM-Family Connection newsletter below.

 

CMTM-CNM Family Connection conference announcement 

 


 

 

 


 

News from Genetic Alliance

European Reference Networks

European Reference Networks (ERNs) connect patients, clinicians and researchers across Europe. They allow knowledge and expertise about rare diseases to be shared across Europe; providing patients with access to diagnosis and transformative care, without the burden of long distance travel. ERNs enable researchers to engage rare disease patients across Europe to support clinical trials, offering families hope that an effective treatment, or even a cure, will be developed for their rare condition.

On 29 March 2019, the UK is set to leave the European Union (EU). At present the UK Government and the EU have not agreed on a withdrawal procedure that protects the UK’s ability to continue to be involved in ERNs. Without continued involvement of the UK, the capacity of ERNs will be diminished and networks risk falling short of their ambition to raise standards and equity in rare disease care across the EU.

You can learn more about how to protect European Reference Networks on the Genetic Alliance  website and support the campaign on social media using #ProtectERNs.

 

 

Protect European Reference Networks

European Reference Networks bring together expertise from across Europe, without the burden of long distance travel.

 

Cordinated care of rare diseases

 

Although good examples of coordinated care exist, there are still serious failings in how care is coordinated for many with rare diseases (including undiagnosed genetic conditions). Many patients do not receive care at a specialist clinic or have access to a named care coordinator, and they have no choice but to become a ‘project manager’ of their own healthcare.

The Genetic Alliance are currently recruiting for patients and healthcare professional focus groups to address this issue.

Focus groups for patients and carers

These focus groups will take place on 11 December 2018 (online) and 6 February 2019 in Birmingham (travel and childcare costs reimbursed). The purpose of the groups will be to develop an understanding of information that is already available about coordinated care for rare diseases. The findings will inform the development of a survey which will be sent to patients, carers and health care professionals later in the study. The focus groups will take two hours.

Focus group for healthcare professionals

This focus group will take place on 23 January or 29 January 2019 in London (travel costs reimbursed) from 
11.30am - 2pm. The purpose of this focus group will be to validate and develop an understanding of findings from existing research. The findings will inform the development of a survey which will be distributed to patients, carers and health care professionals later in the study. 

Further information about this research can be found on the Genetic Alliance website.  

If you would like to take part in this research or would like to ask further questions, please contact Holly Walton by email at holly.walton@ucl.ac.uk or by telephone on 0203 108 3068.

Please note

It is possible that not everyone who wants to will be able to take part. The Genetic Alliance will ask some basic questions about you and your role, to enable  them to select participants for the study so that, if they cannot manage to include everybody, they will be able to include a broad range of people and conditions. 
 

Genetic Alliance UK logo.

Christmas 2018

Christmas is fast approaching, so below are some ways you can raise funds to support research into centronuclear and myotubular myopathy while buying your Christmas cards and gifts.

Easyfundraising

The Myotubular Trust Easyfundraising eStore raises funds for the charity every time someone makes a purchase there. To date £1,249.23 has been raised and during the first three quarters of this year the eStore has raised £184.26 simply by people shopping online. There are a wealth of shops to be found there and all make a donation, anytime you shop using the eStore link, at no cost to the customer. Donations are also made if you say change your credit card, switch your energy provider or renew your insurance. Below are stories from some of the stores regular supporters which explain why they like to support the Myotubular Trust when shopping online. If you would like to join them, you can also visit the Easyfundraising eStore below.


Advent calendar giveaway

During December Easyfundraising are giving away £10,000 in prizes in their Advent Calendar Giveaway. There are daily prizes of £250 and a Christmas Day Grand Prize of £5,000 for one cause. With your help it could be the Myotubular Trust.To be in with a chance of winning prizes for yourself and donations for the Myotubular Trust, visit the calendar each day between 1 December and 24 December to open a window and learn about the prize on offer that day (don't forget to click the pink 'enter' button after reading about the prize). It's free to enter and no purchase is necessary.  

Advent Calendar Giveaway

Advent calendar giveaway image.


Easyfundraising logo

 

Christmas raffle

Buy tickets online for a chance to win prizes worth over £250 including a cashmere poncho by Pure, Jaeger men's black wallet and card holder, Disney film bundle, books, games. chocolates and more. Tickets cost £2 each and the draw will be made on Monday 10 December.  By taking part you will be supporting the Myotubular Trust to raise funds for research into centronuclear and myotubular myopathy. You can buy your tickets until midnight on Sunday 9 December.  

Raffle prizes


Charity cards

Charity cards Shop for Christmas Cards at Charity Cards and 25% of the value of your order will be donated to the Myotubular Trust. There are 30 different designs to choose from and it will be printed in your cards that they were bought in aid of Myotubular Trust - you can see some of the designs below. For the full range see the Charity Cards website below. 
 

Soldiers Christmas card Dachshund Christmas card Walking in the snow Christmas card Snowman and santa Christmas card
Birds in tree Christmas card Peas in santa hats Christmas card Reindeer and robin Christmas card Christmas tree and gifts Christmas card


A date with royalty

 

In September, the Royal Marines Commando Training Centre in Devon was visited by The Duke of Sussex, Prince Harry, in his role as Captain General of The Royal Marines. The centre selects and trains all Royal Marines Officers, Recruits and Reserves. On average, 1,300 recruits, 2,000 potential recruits and 400 potential officers attend training courses and acquaint courses at the centre every year.
 
 
The Prosser family.
 
 
 
Arriving at the centre in a Royal Navy Wildcat Maritime Attack Helicopter, Prince Harry met with new recruits undergoing training, ex marines who were injured in the line of duty and the Invictus Games Racing Team. He also met with Royal Marines families who have children with extra needs including, the Prosser family from Devon - son William is diagnosed with myotubular myopathy and dad Kieran is an Afghan veteran and Royal Marine, who was this year part of a 'handpicked' team to take the England football squad through a tough training weekend to instil 'Commando Spirit'. 

Mum Adele says ‘It was a great chance to meet other families in the Royal Marines who have children with extra needs and also seeing our William there driving around with other inspirational people was highlight of our day.‘ 

Further information and photos from the day can be found on the Daily MailEvening Express and Hello Magazine websites.

 

 
 
 
 
 
 

 

Wacky Rally 

 

Georgina Fowler is diagnosed with centronuclear myopathy and lives in Hereford. She rides at the charity 'Ride 2 Achieve', which seeks to provide bespoke support to disabled horse riders who wish to achieve their full horse riding and therapeutic potential and where riders are provided with support and mentoring, designed to fit with their own individual needs. This year Georgina qualified for the Riding for the Disabled Association National Championship, at the prestigious Hartpury College in Gloucestershire, along with 17 other fellow 'Ride 2 Achieve' riders. The group sent the most riders to the national competition, despite being the smallest group involved. 

 
Georgina

 

Earlier this year a group of Georgina’s friends took part in The ‘Wacky Rally, Barmy to Barcelona’ to raise funds for the charity in a 17 year old VW van purchased for £150, dressed as characters from the A-Team  The rally, described as a four day ‘banger rally’ challenge, covered 2,000 miles. Starting in northern France, the rally headed south to take in some high Swiss, French and Italian mountain passes, then on to the French Rivera, before finishing in Barcelona.

 

Daily challenges were issued by the organisers, however these were not about who is the cleverest, fastest or skilled but an overall combination of everything, with points being gained for things such as the theme of a car, a team being in fancy dress and team work. Over £1,000 was raised for the centre. 
 
Georgina and friends.


Wacky Rally     Wacky Rally     Wacky Rally


More photos of the event can be found on the
Wacky Rally Facebook page.

 


 

Nathan's Place

 

A new play area recently opened in West Belfast in memory of Nathan Doyle. Nathan was diagnosed with x-linked myotubular myopathy and passed away in October 2016 aged 10 years old. 

Nathan

 

 

The play area at Kids Together Belfast (a community organisation that provides support services for children and young people with disabilities and their families) now includes a basket swing, a wheelchair accessible roundabout, climbing frame, planters, sandpit, sit on rockers, a wet pour rubber surface to make the playground safe and Kids Together Belfast’s youth group added their own special touch to the space by designing and painting wall art in memory of Nathan.
 

Wall art


The project aimed to enhance the play area, providing safer facilities, meeting the needs of children and young people with disabilities and having a positive impact on their growth, development and physical wellbeing, as well as improving the local environment through upgrading and improving access to amenities.

 

Nathan’s mum Una says “I am so proud of Nathan having a park named after him. What an honour, probably the most proud day of my life. I hope my beautiful boy was looking down beaming with pride for himself and the legacy he left on this earth. I was just so overwhelmed with the effort and thought that was put into the launch day, led by the Kids Together team. What an amazing organisation I can’t thank them enough.”
 

Nathan's Place bench.  Nathan's Place bench.
 


 

 

 

Love your garden

 

Onessa and Jaroume live in Hackney with their eight year old son Elijah, who is diagnosed with myotubular myopathy and needs round-the-clock care. The family recently had their garden transformed for an episode of the show Love Your Garden.

 

Onessa, Jaroume, Elijah and Alan Titchmarsh.


Prior to the makeover, Elijah rarely left the house, as the garden was too soft to get Elijah’s wheelchair outside, so Elijah's godmother nominated the family for a garden makeover. Onessa and Jaroume had taken a day off from work as they were expecting someone from the show to arrive to assess their garden but instead, the shows presenter Alan Titchmarsh arrived at the door.

Onessa says “I was very emotional, Elijah had just come out of intensive care a week before that and it was the worst he’s been in his life. We thought we were going to lose him in that hospital admission. Seeing Alan Titchmarsh and the team in front of your door was like the gold at the end of a rainbow. It was like the silver lining you are waiting for, from the hard weeks it had been for all of us emotionally." 

 

Elijah in new garden. Elijah in new garden.

The garden was re-designed with a holiday theme, including a beach hut seating 20, a pond, decking, a sensory corner and a kingfisher mural by London born  artist Will Vibes. Onessa says "at some point a lot of people were looking from the outside in, so we invited every neighbour we have. It’s a very complex situation for anyone who has a disabled family member. Your situation isolates you from the rest of the world, if you are dealing with medical emergencies or a sick child.”

Now not only can the family spend time outside but it has helped them make new friends too. Onessa says "Now we have space for people to sit and have some fun times. It’s all about having that quality of life and being able to be out in the garden and having wonderful memories there in the comfort of your own home, when it is hard for you to get out. It’s not just a space - it’s a beautiful oasis. It’s a paradise.”

New garden. New garden. New garden. 

 


 


The Information Point is a non profit organisation which raises awareness of the rare neuromuscular conditions
known as centronuclear and myotubular myopathy. 
It is run on a voluntary basis, funded entirely by donations and grants. 
Funding is currently required for IT and website costs - also sunflower seeds, stamps and envelopes
for The Big Sunflower Project 2019.

If you or are an organisation you work for could help, please get in touch, alternatively, you can learn ways to help below.

Ways to help ~

 


 

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