At the beginning of June, the ENMC (European NeuroMuscular Centre – 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.
The meeting involved 21 participants (including basic scientists, clinicians, patients and industry representatives) from different countries. The meeting promoted collaboration, and the sharing of ideas and information between them all regarding myotubular and centronuclear myopathy.
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 first session of the workshop focussed on already known forms of MTM/CNM, in particular those due to mutations in the MTM1, DNM2, BIN1 and RYR1 genes, and more recently recognized 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 – faithfully replicating 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. The final session summarized the current state of the tools needed – 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.
For more information see http://www.enmc.org/workshops/workshop-reports/centronuclear-myopathies
Attendees (in alphabetical order):
Dr Alan Beggs, Harvard Medical School
Dr Valerie Biancalana, Laboratoire de Diagnostic Genetique, Strasbourg
Dr Marc Bitoun, INSERM, Paris
Dr Anna Buj-Bello, Genethon
Professor Martin Childers, University of Washington
Dr James Dowling, University of Michigan
Dr Edgar Gomes, Group Myologie, Paris
Dr Heinz Jungbluth, King’s College, London
Dr Hal Landy, Valerion
Dr Jocelyn Laporte, IGBMC, France
Anne Lennox, Myotubular Trust
Dr Eva Masiero, King’s College, London
Matthew Patterson, Audentes
Professor Richard Piercy, Royal Veterinary College, London
Deborah Ramsdell, Valerion
Dr Norma Romera, Institut de Myologie, Paris
Dr Laurent Servais, Institute de Myologie, Paris
Professor Caroline Sewry, Dubowitz Neuromuscular Centre, London
Melanie Spring, Myotubular Trust
Dr Laurent TIret, Alfort School of Veterinary Medicine, France
Dr Carina Wallgren-Pettersson, University of Helsinki and Folkhalsan
Professor Dominic Wells, Royal Veterinary College, London