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Education: Workshops
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Total 27 results found since Jan 2013.
234th ENMC International Workshop: Chaperone dysfunction in muscle disease Naarden, The Netherlands, 8 –10 December 2017
Twenty participants from Australia, Belgium, Denmark, Finland, France, Germany, Italy, Israel, The Netherlands, Sweden, UK and the USA met in Naarden, The Netherlands from December 8th –10th, 2017. This group included clinicians, clinical trialists, basic scientists, industry and patient representatives. Patients were represented by the Muscular Dystrophy Association and Alexander's Way (BAG3 associated myopathy). The goals were to discuss the role of protein chaperones in norma l muscle function, muscle disease and future therapies.
Source: Neuromuscular Disorders - September 24, 2018 Category: Neurology Authors: Conrad C. Weihl, Bjarne Udd, Michael Hanna, on behalf of the ENMC workshop study group Tags: Workshop report Source Type: research
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop
AbstractAlthough there are no effective disease-modifying therapies for mitochondrial diseases, an increasing number of trials are being conducted in this rare disease group. The use of sensitive and valid endpoints is essential to test the effectiveness of potential treatments. There is no consensus on which outcome measures to use in children with mitochondrial disease. The aims of this two-day Delphi-based workshop were to (i) define the protocol for an international, multi-centre natural history study in children with mitochondrial myopathy and (ii) to select appropriate outcome measures for a validation study in child...
Source: Journal of Inherited Metabolic Disease - July 19, 2018 Category: Internal Medicine Source Type: research
224Th ENMC international workshop: clinicopathological classification of immune-mediated necrotizing myopathies, naarden, the netherlands, 14-16 october 2016
• Three distinct subtypes of immune-mediated necrotizing myopathies are defined• New pathological criteria for immune-mediated necrotizing myopathies are defined• Anti-HMGCR myopathy, anti-SRP myopathy and antibody negative IMNM are defined• Therapeutic recommendations for anti-HMGCR myopath y, anti-SRP myopathy are given
Source: Neuromuscular Disorders - October 23, 2017 Category: Neurology Authors: Yves Allenbach, Andrew L. Mammen, Olivier Benveniste, Werner Stenzel, on behalf of the Immune-Mediated Necrotizing Myopathies- working group Tags: Workshop report Source Type: research
International workshop: outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. consensus recommendations. rome, italy, 16-18 november 2016
• outcome measures and clinical trial readiness are needed in mitochondrial diseases• primary mitochondrial myopathy has be defined clinically and genetically• this consensus supplies guidance to clinical researchers and industry
Source: Neuromuscular Disorders - September 8, 2017 Category: Neurology Authors: Michelangelo Mancuso, Robert McFarland, Thomas Klopstock, Michio Hirano, Trial Readiness in Mitochondrial Myopathies Tags: Workshop report Source Type: research
217th ENMC International Workshop: RYR1-related Myopathies, 29-31st January 2016, Naarden, The Netherlands
The present ENMC workshop report summarizes recent clinical, molecular and genetic advances in the field of RYR1-related myopathies, and their current translation into clinical practice for patient benefit.
Source: Neuromuscular Disorders - June 6, 2016 Category: Neurology Authors: Heinz Jungbluth, James J. Dowling, Ana Ferreiro, Francesco Muntoni, RYR1 Myopathy Consortium Tags: Workshop report Source Type: research
217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29 –31 January 2016
Seventeen clinicians and basic scientists from 7 countries, as well as 4 patient representatives, gathered for the 217th ENMC International Workshop on RYR1-related Myopathies on 29 –31 January 2016 in Naarden, The Netherlands. The skeletal muscle ryanodine receptor (RYR1) gene encodes the principal sarcoplasmic reticulum (SR) calcium release channel (RyR1) with a crucial role in excitation–contraction coupling (ECC). Over the last decade, dominant and, more recently, reces sive RYR1 mutations have emerged as the most common cause of non-dystrophic inherited neuromuscular disorders, including various congenital myopath...
Source: Neuromuscular Disorders - June 6, 2016 Category: Neurology Authors: Heinz Jungbluth, James J. Dowling, Ana Ferreiro, Francesco Muntoni, RYR1 Myopathy Consortium Tags: Workshop report Source Type: research
217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29–31 January 2016
Seventeen clinicians and basic scientists from 7 countries, as well as 4 patient representatives, gathered for the 217th ENMC International Workshop on RYR1-related Myopathies on 29–31 January 2016 in Naarden, The Netherlands. The skeletal muscle ryanodine receptor (RYR1) gene encodes the principal sarcoplasmic reticulum (SR) calcium release channel (RyR1) with a crucial role in excitation–contraction coupling (ECC). Over the last decade, dominant and, more recently, recessive RYR1 mutations have emerged as the most common cause of non-dystrophic inherited neuromuscular disorders, including various congenital myopathie...
Source: Neuromuscular Disorders - June 6, 2016 Category: Neurology Authors: Heinz Jungbluth, James J. Dowling, Ana Ferreiro, Francesco Muntoni, RYR1 Myopathy Consortium Tags: Workshop report Source Type: research
205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies Part II 28–30 March 2014, Naarden, The Netherlands
The idiopathic inflammatory myopathies (IM) are a heterogeneous group of diseases and diagnosis often necessitates a muscle biopsy. Five main entities are recognized: (1) dermatomyositis (DM); (2) polymyositis (PM); (3) necrotizing autoimmune myopathy (NAM); (4) sporadic inclusion body myositis (IBM); and (5) non-specific myositis. Other entities include granulomatous myopathy, macrophagic myofasciitis, and eosinophilic fasciitis (Shulman's syndrome). The pathological classification and subsequent identification of disease subgroups are extremely important for assessing treatment options and prognosis in the individual pat...
Source: Neuromuscular Disorders - December 11, 2014 Category: Neurology Authors: Jan L. De Bleecker, Boel De Paepe, Eleonora Aronica, Marianne de Visser, ENMC Myositis Muscle Biopsy Study Group, Anthony Amato, Eleonora Aronica, Olivier Benveniste, Jan De Bleecker, Onno de Boer, Boel De Paepe, Marianne de Visser, Mazen Dimachkie, Romai Tags: Workshop report Source Type: research
199th ENMC international workshop: FHL1 related myopathies, June 7–9, 2013, Naarden, The Netherlands
The 199th ENMC workshop on FHL1-related myopathies brought together 20 clinicians and basic scientists from 10 different countries (Australia, Austria, Canada, Egypt, France, Germany, Italy, Japan, United Kingdom, USA) in Naarden from the 7th to the 9th of June 2013. FHL1-related myopathies are a clinically and pathologically heterogeneous group of conditions caused by mutations in the FHL1 gene, which encodes various alternatively spliced isoforms. Topics addressed included clinical, molecular genetic and pathophysiological aspects in patients as well as in animal and cellular models, in particular as they pertain to the ...
Source: Neuromuscular Disorders - March 10, 2014 Category: Neurology Authors: Anne T. Bertrand, Carsten G. Bönnemann, Gisèle Bonne, On behalf of the FHL1 myopathy consortium Tags: Workshop reports Source Type: research
Approach to the diagnosis of congenital myopathies
Abstract: Over the past decade there have been major advances in defining the genetic basis of the majority of congenital myopathy subtypes. However the relationship between each congenital myopathy, defined on histological grounds, and the genetic cause is complex. Many of the congenital myopathies are due to mutations in more than one gene, and mutations in the same gene can cause different muscle pathologies. The International Standard of Care Committee for Congenital Myopathies performed a literature review and consulted a group of experts in the field to develop a summary of (1) the key features common to all forms of...
Source: Neuromuscular Disorders - January 22, 2014 Category: Neurology Authors: Kathryn N. North, Ching H. Wang, Nigel Clarke, Heinz Jungbluth, Mariz Vainzof, James J. Dowling, Kimberly Amburgey, Susana Quijano-Roy, Alan H. Beggs, Caroline Sewry, Nigel G. Laing, Carsten G. Bönnemann, International Standard of Care Committee for Cong Tags: Research papers Source Type: research
198th ENMC International Workshop: 7th Workshop on Centronuclear (Myotubular) myopathies, 31st May – 2nd June 2013, Naarden, The Netherlands
Sixteen clinicians and basic scientists from 4 countries convened from the 31st of May to the 2nd of June 2013 in Naarden, The Netherlands, for the 198th ENMC sponsored Workshop on Centronuclear/Myotubular myopathies (CNM/MTM). The workshop was also attended by Anne Lennox and Melanie Spring as representatives of the Myotubular Trust, a European patient support group for patients affected by myotubular (centronuclear) myopathies, and by Hal Landy, Deborah Ramsdell and Matthew Patterson, representatives of 2 industry partners, Valerion and Audentes Therapeutics, with an interest in developing specific therapies for CNM/MTM.
Source: Neuromuscular Disorders - September 26, 2013 Category: Neurology Authors: Heinz Jungbluth, Carina Wallgren-Pettersson, Jocelyn F. Laporte, on behalf of the Centronuclear (Myotubular) myopathy Consortium Tags: Workshop reports Source Type: research
