INTERNATIONAL SCIENTIFIC COMMITTEE · 2014-01-24 · EDITO • 3 • Dear Colleagues, On behalf of the Scientific and Organizing Committee of the XIIIth International Congress on

PRESIDENT OF THE CONGRESSClaude Desnuelle - France

INTERNATIONAL SCIENTIFIC COMMITTEE

V. Askanas - Los Angeles, USA A. Burghes - Columbus, USAG. Butler-Browne - Paris, France L. Carrier - Hamburg, Germany M. P Collins - Milwaukee, USA D. R Cornblath - Baltimore, USA G. Dickson - London, United Kingdom R. T Dirksen - Rochester, NY, USA A. Evoli - Rome, Italy E. L Feldman - Ann Arbor, USA D. Furling - Paris, France M. Gautel - London, United Kingdom B. Giometto - Treviso, Italy A. Goldberg - Boston, USA E. Gomes - Paris, France D. Hantai - Paris, France I. Illa - Barcelona, Spain T. Kuntzer - Lausanne, Switzerland P. Lafôret - Paris, France N. G Laing - Perth, AustraliaN. Levy - Marseille, France H. Lochmuller - Newcastle, United Kingdom C. Marcelle - Perth, Australia J. Morgan - London, United Kingdom E. Nobile-Orazio - Milan, Italy A. Oldfors - Gothenburg, Sweden V. Paquis - Nice, France M. Rudnicki - Ottawa, Canada L. Schaeffer - Lyon, France P. Shaw - Sheffield, United KingdomV. Timmerman - Antwerp, Belgium A. Toscano - Messina, Italy S. Tzartos - Athens, Greece B. Udd - Tampere, Finland P. Van den Bergh - Brussels, Belgium L.H. van den Berg - Utrecht, The Netherlands S. van der Maarel - Leiden, The Netherlands B. van Engelen - Nijmegen, The Netherlands J. Vissing - Copenhagen, Denmark H. Worman - New York, USA

ORGANIZING AND SCIENTIFIC COMMITTEEGisèle Bonne Philippe Couratier Claude DesnuelleBruno Eymard Jean-Marc Léger Nicolas Levy Pascal Maire Isabelle Marty Philippe Moullier Jean Pouget Thomas Voit

HONORARY PRESIDENTSValerie Askanas - USAMichel Fardeau - France Irena Hausmanowa-Petrusewicz - PolandGeorges Serratrice - France

HONORARY VICE-PRESIDENTSCorrado Angelini - Italy Salvatore DiMauro - USA William King Engel - USAAndrew G. Engel - USA Giovanni Nigro - ItalyLewis P. Rowland - USA

EDITO

• 3 •

Dear Colleagues,

On behalf of the Scientific and Organizing Committee of the XIIIth International Congress on Neuromuscular Diseases, I am delighted to inviteyou to join us for this major event of exchange and circulation of knowledge for those interested in patient-care and scientific advances, patho-physiology and treatment, in neuromuscular disorders.

The International Congress on Neuromuscular Diseases is the regular meeting of the Research Group on Neuromuscular Diseases-World Fede-ration of Neurology (RGNMD-WFN). The first one was organized more than 40 years ago, in 1969, in Milan – Italy and the second one, in 1971,in Perth - Australia. It was then firmly established as the most important forum by the global neuromuscular community, hosted as an every 4-year event by several expert medical and research groups around the world: North America, Australia, Japan, Turkey and Europe. The OrganizingCommittee of the ICNMD XIII is proud to have been selected by the Executive Committee of the RGNMD-WFN to manage the 2014 version andwishes to express its thanks for this commitment.

The ICNMD Congress is a unique opportunity to share scientific advances in neuromuscular neurology by those involved in the fields of improvingcare, understanding disease pathogenesis, and developing innovative treatments in diseases of muscle, neuromuscular junction, peripheral neu-ropathies and motor neurons. This is an optimal meeting place for enhancing knowledge for new as well as established physicians and researchers,and for stimulating discussions and exchanges of views and ideas with colleagues in the focused areas. The goal of the Plenary Session programis to attract speakers of the highest international calibre who will give engaging and thought-provoking presentations on a range of up-to-datetopics and in advanced concepts. We are grateful to those who have accepted invitations to organize and speak in the Thematic Workshops Ses-sions, which will be focused on the most current works in progress. A large place will be dedicated to the selected Submitted Abstracts in regularPoster Sessions, also with specific highlighting through Poster Flash Sessions in which selected authors will have the opportunity of a 3-slide oralpresentation or through Highlight Poster Sessions to summarize the most important Late Breaking News brought by attendees. Moreover, atten-dees will have the opportunity to register for Teaching Courses with lectures by experts, and for Breakfast Seminars conducted by bright youngscientists or MDs on recent concepts.

We are confident this program will meet or exceed your expectations.

In the meantime, the hosting of the Congress by the city of Nice is attractive and a fantastic occasion to visit the French Riviera, specifically in thetemperate weather of July with blooming trees, blue sky and the turquoise green of the Mediterranean sea when strolling on La Baie des Anges.La Côte d’Azur, which has been so important in the heart of many artists and painters such as Matisse, Picasso and Chagall. It was also the placewhere the 19th century European royal dynasties enjoyed spending relaxing long stays. You will find hundreds of typical local-cuisine restaurants,sophisticated beaches, a choice of fine museums, breathtaking landscapes during tours in the vicinity, with rapid contrasts between the quietAlps Mountains and the busy sea shore with more than 2 million people living and working in this magical area.

My colleagues and I are absolutely confident that you will have a very enjoyable time and an unforgettable "souvenir" of your stay!

Last but not least, the ICNMD XIII will take place in the modern facilities of the Acropolis Congress Centre, right next to the Old City, and thesecond most important international airport in France that will welcome you and offer easy connexions with the entire world.

Waiting to welcome you to Nice - France in July 2014 at ICNMD XIII.

Claude Desnuelle, MD, PhDPresident of the Congress

MONDAY JULY 7

07:00 Breakfast Seminar 108:00 Plenary Session 1

Basic sciences, muscle & nerve development10:00 Coffee Break - Visit of exhibition

and poster zone10:30 Poster flash session 111:30 Poster session 1Visit of exhibition and poster zone 12:30 Symposium 1 (Plenary room)14:00 Sessions 1&2 of Thematic Workshops16:45 Coffee Break - Visit of exhibition

and poster zone17:15 Posters Highlights 1

TUESDAY JULY 8


Genetics in neuromuscular diseases10:00 Coffee Break,Visit of exhibition

and poster zone10:30 Poster flash session 211:30 Poster session 2Visit of exhibition and poster zone 12:30 Symposium 2 (Plenary room)14:00 Sessions 3 & 4 of Thematic Workshops16:45 Coffee Break - Visit of exhibition

and poster zone17:15 Posters Highlights 220:00 GALA DINNER

WEDNESDAY JULY 9


Immune-mediated conditions in neuromuscular diseases

10:00 Coffee Break - Visit of exhibitionand poster zone

10:30 Poster flash session 311:30 Poster session 3Visit of exhibition and poster zone 12:30 Symposium 3 (Plenary room)14:00 Sessions 5 & 6 of Thematic Workshops16:45 Coffee Break - Visit of exhibition

and poster zone17:15 Posters Highlights 3

THURSDAY JULY 10


Therapy in neuromuscular diseases10:00 Coffee Break - Visit of exhibition

and poster zone10:30 Poster flash session 411:30 Poster session 4Visit of exhibition and poster zone 12:30 Symposium 4 (Plenary room)14:00 Sessions 7 & 8 of Thematic Workshops16:45 Coffee Break - Visit of exhibition

and poster zone17:15 Posters Highlights 4 17:30 Late breaking news18:30 Closing Ceremony20:00 “AU REVOIR“ DINNER

SATURDAY JULY 5 - OPENINGCommittee Meetings 16:00 Opening of the Welcome Desk

SUNDAY JULY 6 - TEACHING COURSES

Morning Teaching Courses 1 to 8AfternoonTeaching Courses 9 to 1518:30 OPENING CEREMONY19:30 WELCOME PARTY

www.icnmd2014.org

TEACHING COURSES

Teaching Courses (TC) are didactic informal courses, of 1 and 1/2 hour duration, coordinated by an international expert in the topic selected by the Or-ganizing and Scientific Committee of the congress. Each course is limited to 50 attendees who may be registered before the congress on a “first comefirst serve” basis.

The TC session will take place on Sunday July 6, 2014, divided in 4 parts, covering all day long from 8:30 am to 5:30 pm. If interested, you are invited tofill up the specific registration form included in the full registration form to the congress. Please note the selected TC number according to the list below. As TC will not be duplicated, each attendee may select a maximum of 4 choices allocated among the 4 parts of the session.

TC TIMING TITLE COORDINATOR

TC 1 08:30-10:00 Myopathy with prominent contractures: main entities, diagnostic strategies Bruno Eymard (Paris, France)

TC 2 08:30-10:00 Analysis of muscle tissue with electronic microscopy in research practiceClara Franzini-Armstrong (Philadelphia, USA)

TC 3 08:30-10:00 The place of muscle biopsy in the diagnostic of myopathies William K Engel (Los Angeles, USA)

TC 4 08:30-10:00 New insights in mitochondrial myopathies Leonardo Salviati (Padua, Italy)

10:00-10:30 COFFEE BREAK

TC 5 10:30-12:00 Periodic paralysis and the calcium channel Giovanni Meola (Milan, Italy)

TC 6 10:30-12:00 Electrophysiologic approaches of acute and chronic polyradiculoneuropathies Shahram Attarian (Marseille, France)

TC 7 10:30-12:00 How to explore patients when using new genetic toolsVincenzo Nigro (Naples, Italy)Marc Bartoli (Marseille)

TC 8 10:30-12:00 Congenital Myasthenia Daniel Hantai (Paris, France)

12:00-14:00 FREE LUNCH

TC 9 14:00-15:30 New concepts in facioscapulohumeral muscular dystrophy Sabrina Sacconi (Nice, France)

TC 10 14:00-15:30 Amyloid neuropathy: diagnostic tools and treatmentsDavid Adams (Le Kremlin Bicêtre, France)

TC 11 14:00-15:30Basic concepts in the cellular biology of muscle: from neuromuscular transmission to contraction

Bruno Allard (Lyon, France)

TC 12 14:00-15:30 SFM teaching course: Discussion of clinical cases of myopathy Françoise Chapon (Caen, France)

15:30-16:00 COFFEE BREAK

TC 13 16:00-17:30 What about the classification in Limb Girdle Muscular Dystrophy? Corrado Angelini (Padua, Italy)

TC 14 16:00-17:30 Therapies in Amyotrophic Lateral SclerosisVincenzo Silani (Milan, Italy), Pamela Shaw (Sheffield, United Kingdom),John Landers (Boston, USA)

TC 15 16:00-17:30 How to use imaging techniques in the diagnostic of myopathies Anthony Behin (Paris, France)

SUNDAY JULY 6, 2014

SCIENTIFIC PROGRAM

• 6 •

MONDAY JULY 7, 201407:00

08:00

BASIC SCIENCES, MUSCLE AND NERVE DEVELOPMENTPL1.1 Muscle development in mice. Olivier Pourquié (Strasbourg, France)PL1.2 Myogenic stem cells and muscle regeneration. PL1.3 Novel signalling pathways that control muscle mass. Marco Sandri (Padua, Italy)PL1.4 Genetic and epigenetic determinants of myogenesis. Stephen Tapscott (Seattle, USA)

10:00 COFFEE BREAK - VISIT OF THE EXHIBITION AND POSTER ZONE

10:30

11:30 (Author present at allocated board)

VISIT OF THE EXHIBITION

12:30 (PLENARY ROOM)

14:00

TW 1.1 DEVELOPMENT OF NEUROMUSCULAR JUNCTIONCoordinator: Laurent Schaeffer (Lyon, France)

1.1.1 Regulation of muscle gene expression by electrical activity: CtBP mediates repression. Laurent Schaeffer (Lyon, France)1.1.2 Coordinating synaptic differentiation during development and diseases. Steven Burden (New York, USA)1.1.3 Signaling perturbations at the NMJ. David Glass (Boston, USA)

TW 1.2 VASCULITIC PERIPHERAL NEUROPATHYCoordinator: Michael P Collins (Milwaukee, USA)

1.2.1 Classification of the systemic and nonsystemic vasculitic neuropathies - insights into a complex and ongoing process. Michael P Collins (Milwaukee, USA)

1.2.2 Clinical approach to vasculitic neuropathies. Alexander FJE Vrancken (Utrecht, The Netherlands) 1.2.3 Advances in treatment of small/medium-vessel systemic and nonsystemic vasculitic neuropathies.

Robert DM Hadden (London, United Kingdom)

TW 1.3 SPINAL MUSCULAR ATROPHYCoordinator: Arthur Burghes (Columbus, USA)

1.3.1 Development of therapies for SMA preclinical. Arthur Burghes (Columbus, USA) 1.3.2 So basic studies on SMN function as well as downstream targets. Livio Pellizzoni (New York, USA) 1.3.3 Clinical trials and measures in SMA. Eugenio Mercuri (Rome, Italy)

TW 1.4 STEM CELLS AND MUSCLE REGENERATION Coordinator: Gillian Butler-Browne (Paris, France)

1.4.1 Regulation of satellite cell migration manipulating the amoeboid mechanisms for cell movement to promote skeletal muscle regeneration. Ketan Patel (Reading, United Kingdom)

1.4.2 Guidance signals direct muscle repair and repatterning after muscle or nerve injury. Dawn Cornelison (Columbia, USA)1.4.3 Wnt signalling & skeletal muscle repair. Fabien Le Grand (Paris, France)

PLENARY LECTURE SESSION 1

BREAKFAST SEMINAR 1

POSTER FLASH SESSION 1

POSTER SESSION 1

SYMPOSIUM 1

THEMATIC WORKSHOPS - SESSION 1

• 7 •

TW 1.5 INCLUSION BODY MYOSITISCoordinator: Valerie Askanas (Los Angeles, USA)

1.5.1 The most critical mechanisms associated with the sIBM-specific muscle-fiber degeneration, and their treatment possibilities. Valerie Askanas (Los Angeles, USA)

1.5.2 How the impaired muscle repair and regeneration contribute to the sIBM pathogenesis, and their treatment possibilities. Massimiliano Mirabella (Rome, Italy)

1.5.3 How do immune-mediated mechanisms contribute to sIBM pathogenesis, and why dysimmune treatments are largely not effective? Marinos Dalakas (Athens, Greece / Philadelphia, USA)

15:30

TW 2.1 DEVELOPMENT OF MUSCLE LINEAGES (HEART/SKELETAL) Coordinator: Christophe Marcelle (Melbourne, Australia)

2.1.1 Morphogenesis of muscles: a bird'eye view. Christophe Marcelle (Melbourne, Australia) 2.1.2 Head muscle origin, development and regeneration. Eldad Tzahor (Rehovot, Israel) 2.1.3 Development and specification of the muscle stem cell lineage. Thomas Braun (Bad Nauheien, Germany)

TW 2.2 DYSGLOBULINEMIC AND LYMPHOMA-RELATED PERIPHERAL NEUROPATHIESCoordinator: Thierry Kuntzer (Lausanne, Switzerland)

2.2.1 Dysglobulinemic neuropathies. Thierry Kuntzer (Lausanne, Switzerland) 2.2.2 Lymphoma associated neuropathies. Wolfgang Grisold (Vienna, Austria) 2.2.3 Treatment options in haemopathic-associated neuropathies. Marinos Dalakas (Athens, Greece / Philadelphia, USA)

TW 2.3 PATHOMECHANISMS OF HEREDITARY NEUROPATHIES Coordinator: Vincent Timmerman (Antwerp, Belgium)

2.3.1 Understanding the pathomechanisms of peripheral nerve amyloidosis. Mary M Reilly (London, United Kingdom)2.3.2 Understanding the pathomechanisms of hereditary sensory and autonomic neuropathies. Ingo Kurth (Jena, Germany) 2.3.3 Understanding the pathomechanisms of distal hereditary motor neuropathies. Vincent Timmerman (Antwerpen, Belgium)

TW 2.4 CALCIUM FLUXES AND ION CHANNELS IN MUSCLECoordinator: Robert T Dirksen (Rochester, NY, USA)

2.4.1 Periodic Paralysis related to calcium channelopathy. Bertrand Fontaine (Paris, France) 2.4.2 Role TRPC and Orai/Stim channels in muscular dystrophies. Jeffery D Molkentin (Cincinnati, USA) 2.4.3 Novel mechanism of EC uncoupling in central core disease. Robert T Dirksen (Rochester, NY, USA)

TW 2.5 MYOFIBRILLAR AND GNE MYOPATHIESCoordinator: Bjarne Udd (Tampere, Finland)

2.5.1 Clinical characteristics and epidemiology of the genetically defined entities. Bjarne Udd (Tampere, Finland)2.5.2 Diagnostic clues from muscle pathology and MRI. Montse Olivé (Barcelona, Spain)2.5.3 Therapeutic interventions in GNE-myopathy and possible targets in myofibrillar myopathies. Ishizo Nishino (Tokyo, Japan)

TW 2.6 ENMC SESSION: HIGHLIGHTS FROM RECENT ENMC WORKSHOPSCoordinator: Baziel van Engelen (Nijmegen, The Netherlands)

2.6.1 Care for a novel group of patients: Adults with DMD. Scope of the problem and need for care recommendations. Jes Rahbek (Aarhus, Denmark)

2.6.2 Biomarkers in DMD: from the discovery to the development toward clinical application and translation in other NMDs. Alessandra Ferlini (Ferrara, Italy)

2.6.3 Autophagy in Muscular Dystrophies: Translational approach. Luciano Merlini (Bologna, Italy)


17:15


POSTERS HIGHLIGHTS 1

SCIENTIFIC PROGRAM

• 8 •

TUESDAY JULY 8, 201407:00

08:00

GENETICS IN NEUROMUSCULAR DISEASES PL 2.1 Genetics of muscle dystrophies: new advances. Kevin Campbell (Iowa City, USA) PL 2.2 Sequencing and diagnosis approach in neuromuscular diseases. Madhuri Hegde (Atlanta, USA) PL 2.3 New genetic era in congenital myopathies. Carsten Bonnemann (Bethesda, USA) PL 2.4 New genes in motor neuron diseases. Wim Robberecht (Leuven, Belgium)


10:30




14:00

TW 3.1 STEM CELLS AND MUSCLE REGENERATIONCoordinator: Michael Rudnicki (Ottawa, Canada)

3.1.1 A cell-autonomous loss of muscle stem cell self renewal in aged muscle. Bradley Olwin (Boulder, USA)3.1.2 A role for the muscle microenvironment in cancer cachexia. Denis Guttridge (Columbus, USA)3.1.3 The role of the muscle stem cell niche in regulating regenerative myogenesis. Michael Rudnicki (Ottawa, Canada)

TW 3.2 CONGENITAL MYASTHENIC SYNDROMESCoordinator: Daniel Hantai (Paris, France)

3.2.1 Mutations in DOK7 and the N-linked glycosylation pathway: contrasting mechanisms underlying congenital myasthenic syndromes. David Beeson (Oxford, United Kingdom)

3.2.2 Diagnosis and therapy of congenital myasthenic syndromes – clinical update. Hanns Lochmuller (Newcastle, United Kingdom)3.2.3 Agrin and MuSK in congenital myasthenia. Daniel Hantai (Paris, France)3.2.4 Novel congenital myasthenias. Andrew G Engel (Rochester, USA)

TW 3.3 ELECTROPHYSIOLOGICAL APPROACHES IN DYSIMMUNE NEUROMUSCULAR DISEASESCoordinator: Peter Van den Bergh (Brussels, Belgium)

3.3.1 Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): electrodiagnostic evidence. Peter Van den Bergh (Brussels, Belgium)

3.3.2 Guillain-Barré syndrome (GBS): electrodiagnostic challenges. Antonino Uncini (Teramo, Italy) 3.3.3 Neuromuscular junction disorders: electrodiagnostic methods. J Gert van Dijk (Leiden, The Netherlands)

TW 3.4 NEW APPROACHES OF IDENTIFICATION OF GENE: NEXT GENERATION SEQUENCINGCoordinator: Nicolas Levy (Marseille, France)

3.4.1 New systems to interprete data from NGS analysis. Christophe Beroud (Marseille, France)3.4.2 A modular and scalable bioinformatics analytic environment for both NGS and integrative -omics analysis.

Matthew Bellgard (Perth, Australia)3.4.3 FORGE. Jacques Michaud (Montreal, Canada)

BREAKFAST SEMINAR 2



POSTER SESSION 2

SYMPOSIUM 2


• 9 •

TW 3.5 THERAPEUTIC APPROACHES IN FACIOSCAPULOHUMERAL DYSTROPHYCoordinator: Sylvère van der Maarel (Leiden, The Netherlands)

3.5.1 Molecular mechanisms in FSHD: identification of drug gable targets. Sylvère van der Maarel (Leiden, The Netherlands)3.5.2 Current and future management of care and treatment in FSHD. Baziel van Engelen (Nijmegen, The Netherlands) 3.5.3 Biomarkers and trial readiness in FSHD1 and FSHD2; are we ready for the future? Sabrina Sacconi (Nice, France)

15:30

TW 4.1 NEW INSIGHT INTO THE MECHANISM OF MUSCLE ATROPHYCoordinator: Alfred Goldberg (Boston, USA)

4.1.1 New insights into the mechanisms of muscle atrophy. Alfred Goldberg (Boston, USA)4.1.2 FoxO, autophagia and mitochondria: the crossroad for the control of muscle. Marco Sandri (Padua, Italy) 4.1.3 Signalling mechanisms mediating muscle homeostasis. David Glass (Boston, USA)

TW 4.2 INFLAMMATORY MYOPATHIESCoordinator: Isabel Illa (Barcelona, Spain)

4.2.1 Specific auto-antibodies in inflammatory myopathies: identification of new clinico pathological syndromes? Olivier Benveniste (Paris, Fance)

4.2.2 Role of innate immunity in dermatomyositis. Isabel Illa (Barcelona, Spain)4.2.3 Treatment of inflammatory myopathies. Marinos Dalakas (Athens, Greece / Philadelphia, USA)

TW 4.3 THERAPEUTIC APPROACHES TO HEREDITARY MYOPATHIESCoordinator: George Dickson (London, United Kingdom)

4.3.1 Advanced exon skipping antisense strategies for Duchenne Muscular Dystrophy. Matthew Wood (Oxford, United Kingdom)4.3.2 Autologous cell engraftment therapy for Oculopharyngeal Muscular Dystrophy. Capucine Trollet (Paris, France)4.3.3 AAV microdystrophin gene therapy for Duchenne Muscular Dystrophy. George Dickson (London, United Kingdom)

TW 4.4 CONGENITAL MYOPATHIESCoordinator: Nigel G Laing (Perth, Australia)

4.4.1 Nemaline Myopathy and related diseases: genetics, diagnosis and therapy. Nigel G Laing (Perth, Australia) 4.4.2 Gene replacement therapy for myotubular myopathy. Anna Buj-Bello (Evry, France) 4.4.3 Understanding - and improving - sarcomeric function in Nemaline Myopathy. Coen Ottenheijm (Amsterdam, The Netherlands)

TW 4.5 THERAPEUTIC APPROACH IN MYOTONIC DYSTROPHYCoordinator: Denis Furling (Paris, France)

4.5.1 Systemic delivery of a peptide-PMO of CAG sequence neutralizes mutant RNA toxicity in a mouse model of DM1. Andrew Leger (Boston, USA)

4.5.2 Systemic delivery of an antisense oligonucleotide (ASO) targeting DMK RNA improves the phenotype of DMSXL mice. Jack Puymirat (Quebec, Canada)

4.5.3 Targeting nuclear expended repeats to correct RNA gain-of-function effects in DM1. Denis Furling (Paris, France)


17:15

20:00 GALA DINNER (ON REGISTRATION)



SCIENTIFIC PROGRAM

• 10 •

WEDNESDAY JULY 9, 201407:00

08:00

IMMUNE-MEDIATED CONDITIONS IN NEUROMUSCULAR DISEASES PL 3.1 Immune mechanisms in neuromuscular diseases and prospects for target-specific immunotherapies.

Marinos Dalakas (Athens, Greece / Philadelphia, USA) PL 3.2 Emerging new concepts in pathogenesis of inflammatory myopathies. Olivier Benveniste (Paris, France) PL 3.3 Emerging new concepts in pathogenesis of peripheral neuropathy. Hugh Willison (Glasgow, United Kingdom) PL 3.4 Emerging new concepts in pathogenesis of autoimmune channelopathies. Angela Vincent (Oxford, United Kingdom)


10:30




14:00

TW 5.1 PNS SESSION 1: PATHOGENESIS OF IMMUNE MEDIATED NEUROPATHIESCoordinator: Eduardo Nobile-Orazio (Milan, Italy)

5.5.1 Immunology and the nerve. Hans-Peter Hartung (Dusseldorf, Germany) 5.5.2 Anti-nerve antibodies: are they causing immune neuropathies? Nobuhiro Yuki (Singapore, Singapore) 5.5.3 Conduction block: Schwann cell or Axon pathology? Matthew Kiernan (Sydney, Australia) 5.5.4 Nerve pathology: still helpful in the diagnosis of immune neuropathies? Jean-Michel Vallat (Limoges, France)

TW 5.2 RECENT ADVANCES IN UNDERSTANDING ANTIGENIC TARGETS IN MYASTHENIA GRAVIS Coordinator: Socrates Tzartos (Athens, Greece)

5.2.1 Defects of immune regulation in MG patients with anti-AChR antibodies. Sonia Berrih-Aknin (Paris, France)5.2.2 Effector mechanisms of anti-AChR and anti-MUSK antibodies in MG. Marc Debaets (Maastricht, The Netherlands)5.2.3 New autoantigens in MG. Socrates Tzartos (Athens, Greece)

TW 5.3 NEUROMUSCULAR DISORDERS OF MITOCHONDRIAL FUSION AND FISSIONCoordinator: Véronique Paquis (Nice, France)

5.3.1 Novel phenotypes associated with mitochondrial dynamics deficiency. Véronique Paquis (Nice, France)5.3.2 Neuromuscular complications in patients with autosomal dominant optic atrophy.

Patrick Yu-Wai-Man (Newcastle, United Kingdom)5.3.3 Mitochondrial division in neurons and muscle cells. Hiromi Sesaki (Baltimore, USA)

TW 5.4 METABOLIC NEUROPATHYCoordinator: Eva L Feldman (Ann Arbor, USA)

5.4.1 Mechanisms underlying metabolic neuropathy. Eva L Feldman (Ann Arbor, USA) 5.4.2 Metabolic neuropathy: Clinical manifestations and current treatment. Brian Callaghan (Ann Arbor, USA) 5.4.3 Advances in diagnosis and clinical interventions for metabolic neuropathy. Gordon Smith (Salt Lake City, USA)

BREAKFAST SEMINAR 3



POSTER SESSION 3

SYMPOSIUM 3


• 11 •

TW 5.5 NUCLEAR ENVELOPE / NUCLEAR MATRIXCoordinator: Howard Worman (New York, USA)

5.5.1 Emerin-LAP1 Interaction and X-linked Emery-Dreifuss Muscular Dystrophy. Howard Worman (New York, USA)5.5.2 Lamin A/C and striated muscle laminopathies. Antoine Muchir (Paris, France) 5.5.3 Abnormal nuclear mechanics and mechanotransduction in muscular laminopathies. Jan Lammerding (New York, USA)

15:30

TW 6.1 PNS SESSION 2: NEW OPTIONS IN THE TREATMENT OF IMMUNE MEDIATED NEUROPATHIESCoordinator: David R Cornblath (Baltimore, USA)

6.1.1 Guillain-Barré syndrome: new options in therapy for resistant patients. Peter van Doorn (Rotterdam, The Netherlands) 6.1.2 When and how to treat CIDP? Eduardo Nobile-Orazio (Milan, Italy) 6.1.3 Multifocal motor neuropathy: IVIg and ...what else? David R Cornblath (Baltimore, USA) 6.1.4 Rituximab in anti-MAG neuropathies: Yes or No? Jean-Marc Léger (Paris, France)

TW 6.2 NEW THERAPIES IN MYASTHENIA GRAVISCoordinator: Amelia Evoli (Rome, Italy)

6.2.1 New therapies in myastenia gravis: just for refractory diseases. Amelia Evoli (Rome, Italy) 6.2.2 New issues in the rational of thymectomy. Rozen Le Panse (Paris, France) 6.2.3 Antigen-specific apheresis in myasthenia gravis. Socrates Tzartos (Athens, Greece)

TW 6.3 FOCUS ON NEW INSIGHTS IN METABOLIC MYOPATHIESCoordinator: Pascal Lafôret (Paris, France)

6.3.1 New genes for muscle glycogenosis. Pascal Laforêt (Paris, France)6.3.2 Contribution of exercice tests for the diagnosis and study of metabolic myopathies. Nicolai Preisler (Copenhagen, Denmark) 6.3.3 Exercise induced rhabdomyolysis and calcium metabolism. Nicol Voermans (Nijmeggen, The Netherlands)

TW 6.4 PATHOMECHANISMS UNDERLYING MOTOR NEURON DEATH AND NEW THERAPEUTIC APPROACHES IN ALS/NMD Coordinator: Pamela Shaw (Sheffield, United Kingdom)

6.4.1 New therapeutic targets for neuroprotection in ALS/NMD. Pamela Shaw (Sheffield, United Kingdom) 6.4.2 Dysregulation of RNA processing in motor neuron degeneration. Michael Sendtner (Wuerzburg, Germany) 6.4.3 The contribution of astrocytes to motor neuron injury in ALS/NMD. Siddharthan Chandran (Edinburgh, United Kingdom)

TW 6.5 UBIQUITIN-PROTEASOME COMPLEX IN HEART AND SKELETAL MUSCLESCoordinator: Mathias Gautel (London, United Kingdom)

6.5.1 Regulation of ubiquitin-mediated turnover of sarcomeric proteins. Mathias Gautel (London, United Kingdom)6.5.2 UPS dysfunction in hereditary cardiomyopathy (MYBPC3 / LMNA). Lucie Carrier (Hamburg, Germany)6.5.3 Defects in the UPS pathway in hereditary myopathy. Homa Tajshargi (Gothenburg, Sweden)


17:15



SCIENTIFIC PROGRAM

• 12 •

THURSDAY JULY 10, 201407:00

08:00

THERAPY IN NEUROMUSCULAR DISEASES PL 4.1 Loco regional gene therapy for Duchenne Muscular Dystrophy patients. Philippe Moullier (Nantes, France) PL 4.2 Antisense oligonucleotide, Therapy of myopathies . Francesco Muntoni (London, United Kingdom) PL 4.3 RNA targeted therapies for Myotonic Dystrophy. Charles A Thornton (Rochester, NY, USA)PL 4.4 Therapy of DMRV/hIBM (GNE) myopathies. Ichizo Nishino (Tokyo, Japan)


10:30




14:00

TW 7.1 CELL THERAPY IN NEUROMUSCULAR DISEASESCoordinator: Jennifer Morgan (London, United Kingdom)

7.1.1 Mouse satellite cells. Jennifer Morgan (London, United Kingdom)7.1.2 Cell therapy for oculopharyngeal muscular dystrophy. Gillian Butler-Browne (Paris, France)7.1.3 Human artificial chromosomes and iPS cells: novel therapeutic tools for muscular dystrophies.

Saverio Tedesco (London, United Kingdom)

TW 7.2 NEW PATHOMECHANISMS OF AMYOTROPHIC LATERAL SCLEROSISCoordinator: Leonard H van den Berg (Utrecht, The Netherlands)

7.2.1 Genetics of Amyotrophic Lateral Sclerosis. Leonard H van den Berg (Utrecht, The Netherlands)7.2.2 Overlap between Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Orla Hardiman (Dublin, Ireland)7.2.3 Molecular mechanism in Amyotrophic Lateral Sclerosis. Kevin Talbot (Oxford, United Kingdom)

TW 7.3 NEW THERAPIES IN METABOLIC MYOPATHIESCoordinator: Antonio Toscano (Messina, Italy)

7.3.1 Therapeutic approaches in lipid storage myopathies. Antonio Toscano (Messina, Italy), 7.3.2 Therapies in glycogen storage myopathies. Benedikt Schoser (Munich, Germany)7.3.3 Pathophysiological basis for therapies in mitochondrial diseases. Massimo Zeviani (Cambridge, United Kingdom)

TW 7.4 PARANEOPLASTIC PERIPHERAL NEUROPATHYCoordinator: Bruno Giometto (Treviso, Italy)

7.4.1 Paraneoplastic sensory neuropathies: clinical and pathophysiological aspects. Jean-Christophe Antoine (Saint-Etienne, France)7.4.2 Update on Lambert-Eaton myasthenic syndrome. Jan Verschuuren (Leiden, The Netherlands)7.4.3 Paraneoplastic dysautonomia (from the PNS-Euronetwork Database). Bruno Giometto (Treviso, Italy)

BREAKFAST SEMINAR 4



POSTER SESSION 4

SYMPOSIUM 4


• 13 •

TW 7.5 INTERNAL MUSCLE CELL STRUCTURECoordinator: Edgar Gomes (Paris, France)

7.5.1 Formation and maintenance of triads during development and pathological conditions. Edgar Gomes (Paris, France) 7.5.2 Function and structure of sarcoplasmic reticulum. Vincenzo Sorrentino (Siena, Italy)7.5.3 The molecular basis of the stereotyped muscle organization. Clara Franzini-Armstrong (Philadelphia, USA)

15:30

TW 8.1 THERAPEUTIC APPROACH TARGETING THE HEART IN NEUROMUSCULAR DISEASESCoordinator: Lucie Carrier (Hamburg, Germany)

8.8.1 RNA-based or gene-based therapies. Lucie Carrier (Hamburg, Germany) 8.1.2 Management of the cardiac dysfunction in neuromuscular diseases. Denis Duboc (Paris, France) 8.1.3 Targeting HDACs (histone deacetylase) in cardiovascular disease. Joseph A Hill (Dallas, USA)

TW 8.2 OUTCOME MEASURES IN INFLAMMATORY NEUROPATHYCoordinator:

TW 8.3 TREAT NMD ALLIANCE: OMICS TECHNOLOGIES FOR TRANSLATIONAL RESEARCH IN NEUROMUSCULAR DISORDERSCoordinator: Hanns Lochmuller (Newcastle, United Kingdom)

8.3.1 Genomics and gene discovery in hereditary neuropathies. Jan Senderek (Munich, Germany)8.3.2 Proteomics and pathophysiological signatures in myofibrillar myopathies. Rudolf A Kley (Bochum, Germany)8.3.3 Biomarker discovery in Duchenne Muscular Dystrophy. Annemieke Aartsma-Rus (Leiden, The Netherlands)

TW 8.4 DIAGNOSTIC BOUNDARIES OF LIMB GIRDLE MUSCULAR DYSTROPHIESCoordinator: John Vissing (Copenhagen, Denmark)

8.4.1 Proximal weakness and atrophy: is this a limb girdle muscular dystrophy? John Vissing (Copenhagen, Denmark)8.4.2 Overlap of phenotypes in dominantly inherited limb girdle muscular dystrophies vs. other dystrophies.

Kate Bushby (Newcastle, United Kingdom)8.4.3 Phenotypic transitions from congenital to limb girdle muscular dystrophies. Francesco Muntoni (London, United Kingdom)

TW 8.5 ARTHROGRYPOSISCoordinator: Anders Oldfors (Gothenburg, Swenden)

8.5.1 Arthrogryposis a general overview and syndromes. Mar Tulinius (Gothenburg, Sweden)8.5.2 Amyoplasia: current concepts. Eva Kimber (Uppsala, Sweden)8.5.3 Distal arthrogryposis: a developmental myopathy. Anders Oldfors (Gothenburg, Sweden)


17:15

17:30 LATE BREAKING NEWS

18:30 CLOSING CEREMONY



CONGRESS VENUENice AcropolisEsplanade Kennedy, 06302 Nice cedex 4, France

Find more information about Nice at the Office du Tourisme:Foreign Exchange Bureaux� • General information (currency, climate, time difference, etc) • Shopping • Taxis • Telephone

OFFICE du TOURISME et des CONGRÈS�5 Promenade des Anglais, 06302 NICE CEDEX 4�Phone: + 33(0) 892 707 407, Fax: +33(0)4 92 14 46 49��And on the website: www.nicetourisme.com

COMING TO NICE BY AIRAn efficient transport network

The Nice Côte d'Azur Airport is France's second-largest international airport.It is located 15 minutes from the Acropolis (7 km from the city centre). Morethan 50 airlines provide regular service to destinations throughout theworld. An 80-minute flight links Nice to Paris, a connection that is offered23 times a day. http://en.nice.aeroport.fr

Air France Code:The best fare for your airline ticket.Attractive discounts on a wide range of fares on all Air France and KLMflights worldwide.Event: 13th International Congress on Neuromuscular Diseases ICNMDEvent ID : 17950AFValidity dates : from 30/06/14 to 16/07/14Event location: Nice, FranceAttractive discounts on a wide range of airfares on all Air France and KLM flights worldwide**.Use the website of this event or visit www.airfranceklm-globalmeetings.com to: • access the preferential fares granted for this event*,• make your booking,• issue your electronic ticket*,• and select your seat**.If you buy your ticket via AIR FRANCE & KLM Global Meetings website, your electronic ticket will carry a specialmention which justifies the application of the preferential fares.Should you prefer to process your reservations and ticket-purchase directly with an Air France and KLM salesoutlet, you must keep this current document which serves to justify the application of the preferential airfares.Keep the document to justify the special fares with you as you may be asked for it at any point of yourjourney.To locate your nearest Air France and KLM sales point, visit: www.airfrance.com or www.klm.com.You will need to quote the reference given above which is registered in AIR FRANCE KLM data into GDS Amadeus:GGAIRAFGLOBALMEETINGS

COMING TO NICE BY TRAINThe Nice train station is located in the heart of the city.

There are many daily connections by rail from the main cities in France andabroad. To book your journey, connect you on: www.voyages-sncf.fr

BUS AND TRAMWAYThe Nice transport network offers:• over 40 day-time bus routes • Noctambus: 4 night-time routes • a single ticket (bus/tram) • numerous connections • the first free passenger parking service The tramway line 1 provides a north/east connection through the centre of Nice by the avenue Jean Médecin and the Place Massena. For more information (maps, timetables, prices): www.lignedazur.com

TAXISPhone: +33 (0)4 93 13 78 7824 hours a day, 7 days a week. Night rate between 7 p.m. and 7 a.m.

Main stations:- Esplanade Masséna - Promenade des Anglais - Place Garibaldi - Rue Hôtel-des-Postes- Gare SNCF - Acropolis

ACCOMMODATIONAccommodation form on our website : www.icnmd2014.org

GENERAL INFORMATION

CONGRESS FEES

TEACHING COURSE REGISTRATION*

REGISTRATION FORM

Early Bird Fee (Until 28 February 2014) Late Fee and Onsite (From 1st March 2014)

o Gala Dinner - Tuesday, 8 July

o “Au Revoir” Dinner - Thursday, 10 July

Cost per person

Number ofperson

TOTALCOST

€ 90 ................ € ..............

€ 60 ................ € ..............

First Name . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .Last Name . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

Address . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

Postal /Zip Code . . . . . . . . . . . .City . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .Country . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

Phone . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .Fax . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

E-mail (mandatory for confirmation): . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .

Please send this registration form with payment before 25 June 2014, to MCO Congres, 27 rue du Four à Chaux – 13007 Marseille – France, Phone +33(0)4 95 09 38 00

E-mail: [email protected] - [email protected] Registration : www.icnmd2014.org (no closure)

Congress Registration: Please note that registrations will be accepted until 25 June 2014 through fax, email or regularmail. After this date, registrations will be possible onsite or online. Cancellation of Registration: Cancellations received by 28 February 2014 will incur a cancellation fee of 50% of the totalamount. Cancellations received after 28 February 2014 are not refundable.


Regular Registration fee o € 600 o € 750

Reduced Registration Fee (Students / Nursing and Laboratory Staff*) o € 320 o € 700

ACCOMPANYING PERSON REGISTRATION o € 150 o € 150

The fee for accompanying persons includes Welcome Reception, Opening and Closing Ceremonies, coffee breaks, admission to the Exhibition. Accompanying persons have no access to the lectures and receive no conference materials.DETAILS:First Name . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .Last Name . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .City . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .Country . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .E-mail : . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .


*Upon presentation of a letter signed by his/her Hospital / Clinic Supervisor or his/her University/Laboratory, stating his/her status.

SOCIAL PROGRAM

Welcome Party - Sunday, 6 July (Registration required) - Free of Charge o Yes, I will attend o No, I will not attend

Opening Ceremony - Sunday, 6 July (Registration required) - Free of charge o Yes, I will attend o No, I will not attend

Sunday, 6 July 2014

08:30 o TC n°1 o TC n°2 o TC n°3 o TC n°410:30 o TC n°5 o TC n°6 o TC n°7 o TC n°814:00 o TC n°9 o TC n°10 o TC n°11 o TC n°1216:00 o TC n°13 o TC n°14 o TC n°15

Only delegates registered to the congress can register to the Teaching Courses. Please select below the teaching courses you wish to attend:

Please note that you cannot register to Teaching Courses scheduled at the same time.

Cost per person

Number ofperson

TOTALCOST

€ 80 ................ € ..............

€ 50 ................ € ..............

Cost per Course

Quan-tity

TOTALCOST

€ 80 ............. € .........

Cost per Course

Quan-tity

TOTALCOST

€ 150 ............. € .........

*TC program is available on the website : www.icnmd2014.orgby clicking on program then Sunday 6.

REGISTRATION FORM

PAYMENT

ACCOMMODATION

Amount to charge: _______________

Payment (Payment should be made in euros, payable to MCO Congrès) Please indicate “ICNMD XIII” and your name on all money transfers.

o by bank cheque (in euros) to MCO Congrès

o by bank transfer to the account (send MCO Congrès a copy of the bank transfer to finalize registration – mandatory)BANK REFERENCES: BANQUE PALATINE – MCO CONGRESBANK CODE: 40978 – BRANCH CODE: 00023 – ACCOUNT N°: 1111784V001 – KEY: 73SWIFT: BSPFFRPPXXX – IBAN: FR15 4097 8000 2311 1178 4V00 173

o by card: o Visa � o Mastercard � o AmexCard N°/____/_____/_____/_____/____/_____/_____/_____/____/_____/_____/_____/____/_____/_____/_____/Cryptogram N° /_____/ Expiry date: /_____/_____/Cardholder’s name: _______________________________________

o I authorise MCO Congress, the official congress organiser, to charge the amount to my card.

Signature & date

Rooms have been prebooked at the special rates. If you wish to book a room, please download the accommodation form on our website: www.icnmd2014.org

GENERAL ORGANIZATIONMCO Congrès, 27 rue du Four à Chaux, 13007 Marseille – France, Phone: +33(0)4 95 09 38 00 - Fax: +33(0)4 95 09 38 01Contacts: [email protected] • [email protected]

Single Room (1 person) Double Room (2 persons)

NH Hôtel**** € 180,00 - € 220,00 (1) -

Mercure Nice Centre Notre Dame**** € 153,27 - € 168,60 * € 171,03 - € 188,13 *

Mercure Nice Promenade des Anglais**** € 202,00 - € 220,00 (1)* € 221,00 - € 241,00 (1) *

Ibis Nice Palais des Congrès** € 108,41 - € 119,25 * € 117,76 - € 129,54 *

Ibis Styles Vieux Port** € 129,91 - € 142,90 * € 139,25 - € 153,18 *

Ibis Nice Centre Gare** € 100,93 - € 111,02 * € 109,35 - € 120,29 *

* Breakfast included / local tax is not included(1) Indicative rate

Due to the peak season in July, we would strongly recommend to book your accommodation as early as possible.

www.icnmd2014.org

Documents

INTERNATIONAL SCIENTIFIC COMMITTEE · 2014-01-24 · EDITO • 3 • Dear Colleagues, On behalf of the Scientific and Organizing Committee of the XIIIth International Congress on