This article about the 219th ENMC workshop on myotubular/centronuclear myopathies first appeared in the Information Point newsletter Our World in 2016.
The purpose of the workshop was to establish an international database of mutations, variations and their clinical presentations, to be able to determine if particular genetic variants of the gene are the cause of disease. The workshop brought together worldwide leaders in the Titin myopathy field, Titin family advocates, as well as representatives from other successfully developed groups.
This article about the 214th ENMC workshop first appeared in the Information Point newsletter Our World in 2016.
The 214th ENMC workshop entitled ‘establishing an international consortium for gene discovery and clinical research for congenital muscle diseases’ took place from between 16 – 18 October 2015 in Heemskerk, Netherlands.
26 participants took part in this workshop, including 22 clinical and researchers from France, the UK, Japan, Canada, Brazil, China, Turkey, Italy, the Netherlands, Australia and the USA, together with patient representatives from the Myotubular Trust, RYR1 Foundation and CureCMD.
Individually congenital muscle diseases are very rare but collectively, the diseases which include centronuclear and myotubular myopathy, represent a major subset of neuromuscular diseases, so the aim of the workshop was to address current barriers with the primary goal being to establish a consortium for the study of the genetics of congenital muscle diseases and deciding what the initial projects of the group should be.
This article about the 198th ENMC international workshop on myotubular/centronuclear myopathies first appeared in the Information Point newsletter Our World in 2013.
At the beginning of June 2013, the European Neuromuscular Centre (ENMC) (an international organisation facilitating communication amongst scientists and clinicians working in the area of neuromuscular disease) sponsored a conference on myotubular and centronuclear myopathy, the first for our condition since 2009. Leading researchers from all over Europe and the US presented and and we were really delighted to be there to see the collaboration and the sharing of ideas and information between them all.
It was incredibly reassuring to see how closely they are all trying to work together. None of us can be unmoved by the following line from the conference lay summary: “Since the most recent ENMC workshop on MTM/CNM in 2009, the field has seen an exponential increase in knowledge concerning these conditions, with therapy development becoming an increasingly realistic prospect”.
Sessions included a workshop focused on already known forms of MTM/CNM, in particular those due to mutations in the MTM1, DNM2, BIN1 and RYR1 genes and more recently recognised disorders identified through systematic application of powerful novel genetic techniques.
Further sessions concentrated on the current understanding of disease mechanisms, as studied in cells and animal models including zebrafish, mouse and dog, which have been shown to faithfully replicate many aspects of MTM/CNM in humans. The results of experimental therapeutic approaches in animal models of MTM/CNM were presented, with a particular view to their potential applicability in humans affected by these disorders and the final session summarised the current state of the tools needed, including patient registries and studies of the natural history of the disorders, to translate recent insights derived from animal studies into therapy development of direct benefit for patients.
Lastly, the importance of joint international efforts for the study of rare conditions such as MTM/CNM was emphasized, and plans for further collaborations and meetings were drafted.
The Information Point newsletter Our World has written about ENMC workshops on several occasions. You can read the reports below and view the full reports on the ENMC website.