Many of the conditions we support at Muscular Dystrophy UK are rare, but few are as rare as LMNA-CMD.
The condition is caused by a mutation in a key gene which leads to progressive muscle weakness of the skeletal, respiratory and heart muscles. It’s estimated to affect around 50 people in the UK.
But it’s also an incredibly varied condition. Different people could have the same genetic mutation but have very different severity of symptoms. Getting to know that variation is going to be essential to helping us understand and manage the condition, and potentially one day to create personalised treatments.
And that’s what a new project, part-funded by three of our Family Funds for children living with the condition – Georgie’s Genes, Carmela’s Stand Up to Muscular Dystrophy and Stanley’s Heroes – will do.
The work is co-funded by American charity Cure CMD and will be led by Dr Gisèle Bonne, at the INSERM-Sorbonne Université-Center of Research in Myology in Paris, who will look at all the other genetic changes that alter the severity of the condition, known as modifiers.
“We have no true idea how many modifiers there could be,” says Dr Bonne. “Some people develop skeletal muscle symptoms in childhood, some will have onset only by the late forties. Some others may have no skeletal muscle symptoms at all – although all will have cardiac muscle disease.”
The real boon to the study has been finding a large family in France in which all affected members have the same mutation but have different levels of clinical severity, making it easier to look for the key modifiers for the condition. Despite that, Dr Bonne says the first real step in the project will be accessing patient information – finding people with the condition is one thing, but finding the biological material and detailed medical information about them takes a lot more work. But she is confident the team will be able to get the data and material – she estimates a minimum of six people for each level of severity of the condition will be enough to build a picture for her team to analyse. They may also look internationally for more people living with the condition.
Says Dr Bonne: “We would really like to thank all the families for their fundraising and we hope we will be able to get positive results from this project. This won’t create a cure or modify their lifestyle in two or five years from now, but we shall know the condition better and it can help us go further in developing therapeutic approaches.”
You can read more about the research on the lay summary page.
The families: Georgie’s Genes
Georgie Armstrong, from Edinburgh, was diagnosed with LMNA-CMD in 2014. Now six, she doesn’t let it stop her doing what she wants to do.
Says mum Lindsey: “She’s got this condition and her mobility is affected, but she’s doing really well and can still walk. She’s got a can-do attitude and she’s really determined.”
The whole family has got involved in fundraising. Everyone has come together for coffee mornings and sales; Michael, Georgie’s dad, has taken on a series of runs including some ultra-marathons; and his aunt has set up bridge afternoons that have helped raise a lot of funds.
The family have also been very involved in research. Georgie is enrolled in a natural history study, for which Lindsey sends data to researchers in America; she also has a heart monitor from researchers in Spain who are looking at cardiac issues in the condition.
And Lindsey has actually met Dr Bonne while attending research conferences on the condition. “Gisèle is a well-respected scientist,” she says. “The fact we can help fund a project she is working on is brilliant.
“I think it’s a bit different to other projects that look at something specific like the heart. And it’s exciting to think that this research could help care become much more individual in the future.”
The Newmans are based in Clacton-on-Sea in Essex, and have been fundraising in son Stanley’s name since he was diagnosed in 2015.
Stanley, now 6, has had a recent health boost after enrolling in a steroid trial similar to that used for boys with Duchenne. “It’s helped him in loads of different ways,” says his dad Rob. “He can stand and walk a bit, he can use pencils for a bit. And it’s helped to increase his appetite andweight gain. That’s giving him more abilities at school to keep up with his classmates.”
Around caring for Stanley, Rob has organised a lot of fundraising through his job as a firefighter, with the station taking on car washes, open days, as well as Santa’s Grotto events with their local bank. Stanley also got involved in parasport event Parallel London.
And the family are really positive about that money being invested in the new research project. “Having a rare condition can makes thing harder,” says Rob, “from getting the money to finding the research if you don’t have that many people to research with.”
Says Rob: “When they talk about future projects it always makes me excited in that there’s more to come. From these initial steps we can move forward.”
Carmela’s Stand Up to Muscular Dystrophy
The newest Family Fund helping fund this project is for Carmela, four, from Wiltshire.
Diagnosed just a year ago, her mum Lucy is determined to make sure she stays active for as long as possible.
She says: “Carmela is still quite mobile and relies on her motorised wheelchair for long walks and tired days. She loves life and thoroughly enjoys being active but can get upset and frustrated when she can’t do things her peers can. We remind Carmela what she has most weeks, especially when she hits obstacles and so we work together to work out how to overcome them.”
The family have got friends and people from their local village to get behind their fundraising, and Carmela has stayed at the centre of all the action. Most recently she took part in a superhero-themed triathlon with comedian Adam Hills, taking on the cycling section – with a little help from Lucy – while he tackled the running.
Lucy says the family are looking forward to the potential that personalised treatment has to offer.
MDUK leading research
This grant award has been made possible thanks to a funding partnership of two charities – Muscular Dystrophy UK and Cure CMD. We are collaborating to support a programme of world-class research to find effective treatments and cures for LMNA congenital muscular dystrophies (CMD).
Dr Kate Adcock, Director of Research and Innovation at Muscular Dystrophy UK, said:
“As muscle-wasting conditions are so rare, it’s important that we work together with others to boost research, and that’s why we are so proud of the LMNA-CMD partnership with Cure CMD.
“Dr Bonne is a world expert and this project should take us a step forward in understanding why people with the condition experience such different symptoms, ultimately helping us to design better care, and one day, treatments.
“We are so grateful to all the families who have worked so hard to raise money for this project and look forward to sharing the results.”
Dr Gustavo Dziewczapolski, Cure CMD Scientific Director, said:
“We are thrilled to announce the recipient of the co-funded grant with Muscular Dystrophy UK, whose mission is so closely aligned with ours.
“Dr Bonne has been instrumental over the years in helping advance CMD research and particularly LMNA-CMD. This thoughtful and promising project will potentially help to better define prognosis, provide adapted care to patients, and uncover new therapeutic targets. It could also be extremely useful when designing clinical trials as more homogeneous study cohorts could be selected helping reduce variability of trial outcome.”
Read more about all of Muscular Dystrophy UK’s 2018 research grants, covering 10 projects and totalling £1.2m.