The 12th UK Neuromuscular Translational Research Conference was held in Newcastle on 4-5 April 2019. Jointly organised by MDUK and the MRC Centre for Neuromuscular Disease, the conference showcased recent developments in research and was attended by eminent international scientists.
The conference included talks and posters on a range of neuromuscular conditions. We were delighted to see lots of MDUK-funded researchers in attendance, including the following who were selected for platform presentations:
- Dr Saverio Tedesco – making mini-muscles to test potential treatments for Duchenne
- Dr Antonella Spinazzola – a pilot study testing a potential treatment for mitochondrial myopathy
- Dr Alex Murphy – assessing muscle fibrosis by MRI
- Prof Andrew Blamire – developing an MRI technique for monitoring spinal muscular atrophy
The conference kicked off with an introduction to the new International Centre for Genomic Research in Neuromuscular Diseases. The aim of the Centre is to create a partnership between the UK and low and middle income countries, including Brazil, India, South Africa, Turkey and Zambia. This will help to build research capacity in these countries and increase the number of patients with an accurate genetic diagnosis. What we learn from these countries could also be useful for diagnosing patients here in the UK.
We had a stand in the exhibitor area to help raise awareness of the charity and the support we offer to researchers and healthcare professionals as well as to patients. Our Director of Research and Innovation, Dr Kate Adcock, also gave a presentation on our new Research Strategy, which you can read more about here.
There was a session dedicated to one of our Research Vice Presidents, Professor Kate Bushby. Professor Bushy retired last year but continues to work with the John Walton Muscular Dystrophy Research Centre as Emeritus Professor of Neuromuscular Genetics. Over her 29 year career in Newcastle, Professor Bushby had a crucial role in improving care for people with neuromuscular conditions and accelerating translational research. She helped to set up important European initiatives including Treat-NMD and the European Reference Network for Neuromuscular Diseases. She has also been fundamental in establishing international guidelines for the care of Duchenne muscular dystrophy and improving knowledge of dysferlinopathy (limb girdle muscular dystrophy 2B).
There were some interesting talks on gene therapy. Dr Barry Bryne from the University of Florida discussed the challenges around the immune response to adeno-associated viruses (AAVs) and potential ways to tackle pre-existing immunity. Dr Kevin Flanigan from Nationwide Children’s Hospital, USA, gave an update on the GALGT2 gene therapy being developed in partnership with Sarepta Therapeutics. GALGT2 codes for an enzyme that helps to stabilise the muscle cell. Previous studies have shown that delivering the GALGT2 gene into animal models of Duchenne muscular dystrophy and types of limb girdle muscular dystrophy and congenital muscular dystrophy can improve muscle health.
A small trial testing GALGT2 gene therapy in boys with Duchenne showed that the therapy was safe when delivered only to the leg muscles. Unfortunately its efficacy was limited, but this was thought to be due to the delivery method. Dr Flanigan and his team are now planning another trial where the gene therapy will be delivered systemically (to the whole body).
Professor Charles Gersbach from Duke University, USA, also gave an overview of genome editing for Duchenne muscular dystrophy. His group are developing potential treatments using AAVs to deliver genome editing components. They have recently published a study showing that a single injection of their AAV can sustain dystrophin production in a Duchenne mouse model for one year.