Lily Foundation staff members Alison Maguire (Head of Research and Finance) and Katie Waller (Science and Patient Engagement Officer) were pleased to be invited to take part in an ENMC International Workshop on Leigh Syndrome over the weekend (March 25-27th).
ENMC (the European Neuromuscular Centre) is a worldwide organisation that coordinates workshops focused on rare neuromuscular diseases. The aim of this workshop was to bring together expert clinicians, researchers and industry members, as well as patient advocacy groups, to discuss the advances that are being made in developing research and developments into Leigh Syndrome.
We heard excellent presentations on a number of aspects of the disease, including projects that aim to identify new genes that cause Leigh Syndrome, as well as the development of new biological markers and cell and animal models that can help us understand how new treatments may work in humans.
Talks were given about the importance of data collection including the development of global registries and natural history studies that help us to understand more about progression of the disease and build knowledge that can be used to design and run future clinical trials. It was also a great opportunity to hear from the pharmaceutical industry about the challenges of bringing new drugs to market for mitochondrial diseases such as Leigh Syndrome and get their perspective on the ways in which this can be achieved.
The ENMC encourages patient participation in workshops, as well as in research more generally, and has patients at its heart. It was fantastic to see that the workshop included a focus on the patient voice, and participants were given the opportunity to hear from Faye Wylie, founder of the Leigh Network. Faye gave a powerful talk detailing how Leigh Syndrome has affected her life, and this added real value in terms of helping researchers and clinicians understand the lived experience of Leigh Syndrome.
The Lily Foundation were proud to highlight ‘The Role of Patient Organisations’ in encouraging research collaboration using our Leigh Syndrome International Consortium as an example of how we can all work successfully together across borders, and also how we would like to collaborate to develop ‘International Standards of Care for Leigh Syndrome’ that will improve the quality of life of patients worldwide in the near future.
More about ENMC: https://vimeo.com/127001054