Newsletter for the Centronuclear and Myotubular Myopathy Community
Issue 2: 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.
Further information and presentations
ASPIRO the X-linked MTM clinical trial continues to report positive results.
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.
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).
New positive interim data from ASPIRO was presented at the 23rd International Annual Congress of the World Muscle Society.
Third quarter financial results including an update on ASPIRO were published.
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
Protect European Reference Networks
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 email@example.com or by telephone on 0203 108 3068.
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.
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.
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
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.
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.
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.
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.
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.
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.”
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.
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."
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.”
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 ~