Polyglucosan storage myopathies
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251st ENMC International Workshop
Location: Hoofddorp, the Netherlands
Title: Polyglucosan Storage Myopathies
Date: 13-15 December 2019
Organizers: Anders Oldfors (Sweden), Pascal Laforêt (France), Edoardo Malfatti (France), John Vissing (Denmark)
Translations of this lay report:
French by Prof. P. Laforêt
Spanish by Prof. J. Guinovart
Catelan by Dr J. Duran
Danish by Prof. J. Vissing
Swedish by Prof. A. Oldfors
Hebrew by Prof. O. Kakhlon
Participants: M. A. Colle (France), J. Duran (Spain), M. Gentry (USA), J. Guinovart (Spain), T. Hurley (USA), O. Kakhlon (Israel), T. Krag (Denmark), H. Landy (USA), P. Laforêt (France), C.B. Lilleør (Denmark), E. Malfatti (France), B. Minassian (Canada/USA), F. Mingozzi (France), E. Murphy (UK), A. Oldfors (Sweden), R. Piercy (UK), M. Piraud (France), V. Ramanan (USA) M. Stemmerik (Denmark), C. Thomsen (Sweden) J. Vissing (Denmark), M. Weil (Israel)
Twenty-one participants, including one patient representative and three industry representatives, from European countries, USA, Canada and Israel attended the 251st ENMC sponsored workshop focusing on polyglucosan storage myopathies.
Polyglucosan storage myopathies are a group of glycogen storage diseases with accumulation of polysaccharides that are less branched than normal glycogen. These polysaccharides form inclusion bodies in the muscle fibers that are the pathological hallmarks of the diseases, which comprise a group of less than ten different genetically characterized entities. Although the diseases have the muscle polyglucosan storage in common some of them affect also other tissues, which in some cases cause the main symptoms.
The aim of the ENMC workshop was to create a multidisciplinary forum for discussion between clinical and basic researchers working on polyglucosan storage-related issues. The attending experts discussed recent discoveries of new and established disease entities, their genetic background and pathophysiological mechanism. This was followed by discussions about pharmacological or gene treatment options derived from current knowledge of disease mechanisms. Several animal models were described and the promising results from preclinical treatment studies in these animal models with the aim to reduce the amount of polyglucosan storage to cure the disease or prevent its progression. Major benefits of this workshop for patients with polyglucosan storage myopathies include exchange of knowledge amongst participating experts with establishment of new scientific collaborations leading to improved diagnostic possibilities and intensified efforts to promote preclinical and clinical treatment investigations.
Extract from the application to ENMC to have this workshop:
Questions to focus on in the workshop include:
Aims and objectives:
The participants of the 251th ENMC workshop on polyglucosan storage myopathies
The full report is published in Neuromuscular Disorders (PDF)
ENMC
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+ 31- 35-5480481
enmc@enmc.org
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