Family Conference 2018


The other is to think through the special challenges of doing clinicalstudies and therapeutic trials in children affected early onset muscle conditions like myotubular myopathy. Little wooden dishes I got a new supply of little wooden dishes for my CraftArtEdu. We were delighted to have been joined by many adults and children affected by myotubular and centronuclear myopathies, their families, doctors and carers at our family conference. We are now developing a translated approach using antisense oligonucleotides to modulate dynamin 2 expression in centronuclear myopathies. An observational cohort study in major burn injury patients TBSA?

Children’s and Young People’s Workshops:


CNM — Together Strong! I wanted to thank all of you who did all of this colossal wonderful work and all the efforts you are putting in for our cause. I think you are really amazing — all of you — who are working so hard to give us hope.

In the last few years the neuromuscular field has seen a proliferation of experimental approaches for specific neuromuscular diseases. The two conditions leading the field are Spinal Muscular Atrophy and Duchenne muscular dystrophy, in which therapeutic interventions have gone all the way from experimental stages to drug approval, while many other approaches are in clinical trials.

The outcome of some of these studies has been outstanding, while others have more modestly impacted on the progression of the disease. A new challenge that these developments have also brought to light relates to the cost of these products and their affordability given the current financial constraints. These are aspects that require wider public discussion so that effective therapies can also effectively become available to our patients. Click here to see the presentation PDF.

The DNA is a giant book of 6 billion characters that encode life. It is a construction plan for every living organism. Every newborn gets a copy of the DNA from the parents, and single copy errors occur in each generation.

This is why we all look different. Sometimes, errors occur in essential DNA regions important for bone formation, immune activity, or muscle contraction, and these errors give rise to diseases.

Finding these errors and understanding how they cause the disease is the first step towards the development of therapies. Dr Suyash Prasad provided an overview of progress made in gene therapy development for myotubular myopathy, together with some frequently asked questions.

Changes in RYR1 cause a wide range of early-onset muscle disorders including centronuclear myopathy CNM , and a similar spectrum of neuromuscular disease is currently emerging in association with mutations in the giant TTN gene. Click here to see the joint presentation PDF. Our previous work indicates myotubularin, BIN1 and dynamin 2 work together in muscle, and regulation of these links is important for normal muscle function.

We have shown that reducing dynamin 2 in different forms of centronuclear myopathies improves muscle function in mice. We are now developing a translated approach using antisense oligonucleotides to modulate dynamin 2 expression in centronuclear myopathies. Myotubular Myopathy is a currently untreatable disorder that will likely require multiple approaches for successful cure. Using a combination of approaches, we have identified several potential complementary strategies for treating XLMTM.

This study is the first to investigate the role of vitamin D in recovery from burn injury and suggests that vitamin D supplementation may be a simple and cost-effective treatment to enhance burn healing.

Despite improvements in burn care over the last 10 years, many patients are still at risk of poor recovery. Complications can range from delayed wound healing through to infections. Patients with severe burns are at high risk of infection that may lead to life-threatening sepsis.

Vitamin D is known to have antibacterial actions that may help combat infection and therefore aid in wound healing of burn patients. The study found that patients with higher levels of vitamin D had a better prognosis, with improved wound healing, fewer complications and less scarring.

The data also showed that burns patients tend to have lower levels of vitamin D. These data suggest that vitamin D supplementation immediately following burn injury may have potent health benefits to the patient, including enhanced antimicrobial activity to prevent infection, and improved wound healing. Prof Lord states, "Major burn injury severely reduces vitamin D levels and adding this vitamin back may be a simple, safe and cost-effective way to improve outcomes for burns patients, with minimal cost to NHS.

The effectiveness of vitamin D supplementation to improve outcomes in burn patients would need to be verified in clinical trials. Prof Lord and her team are now focussed on finding out why there is a rapid loss of vitamin D in patients immediately following burn injury and hope that they may be able to prevent this in future.

The amount of reduction in patients' vitamin D levels was not related to the severity of the burn, so levels may also be decreased in more minor burn injuries. Prof Lord comments, "Low vitamin D levels were associated with worse outcomes in burn patients including life threatening infections, mortality and delayed wound healing.

It was also associated with worse scarring but vitamin D levels are something generally overlooked by clinicians.