Les chercheurs et cliniciens de l’Institut sont présents au 29ème congrès de la WMS

Le 29ème congrès international de la World Muscle Society (WMS) se tiendra du 8 au 12 octobre 2024 à Prague en Tchéquie. L’Institut de Myologie y sera très bien représenté avec de nombreux experts scientifiques et cliniques présents pour évoquer des thématiques de recherche clinique et fondamentale.

Denis Furling (CRM) y présentera une communication orale.

Dr Teresinha Evangelista (CEEN), Piera Smeriglio (CRM) et Gisèle Bonne (CRM) assureront le rôle de modératrices de sessions.

50 posters des chercheurs et cliniciens de l’Institut seront par ailleurs présentés durant le congrès.

 

Interventions

Lundi 7 octobre

  • Dr Karim Wahbi – enseignant dans la session pré-congrès : Atteintes cardiaques dans les myopathies

Mercredi 9 octobre

  • Dr Teresinha Evangelista – co-modératrice du débat : Can the costs of gene therapies in neuromuscular disorders be justified? 
  • Piera Smeriglio – modératrice de la session « Short Oral Presentations 5″

Vendredi 11 octobre

  • Gisèle Bonne – co-modératrice dans la session « RNA in NMD: Clinical Insights, Pathomechanisms and Treatments »

Samedi 12 octobre

  • Denis Furling – speaker dans la session « Late breaking news«  Decoy gene therapy for myotonic dystrophy

 

Télécharger le programme complet ou le programme résumé du congrès.

 

En savoir plus sur le congrès WMS 2024.

 

Liste des posters des chercheurs et cliniciens de l’Institut

Poster session 1 (mercredi 9 octobre – 14h30-15h30)

  • 114P Epidemiology and therapeutic outcomes of patients with Spinal Muscular Atrophy: results from a 12-year real-world study based on the French National Healthcare database (SNDS) Quijano-Roy S, Bourget I, Lot A, Desguerre I, Urtizberea J, de Chasteigner A, Leiba G, Affinito S, Panes A, Denis H, Schmidt A
  • 211P Following patient mobility in daily life: the EJP-DT4RD project
    Hogrel J, Muni-Lofra R, Santmarty P, Decostre V, Marques T, Haf Davies E, Straub V, the DT4RD Project Group
  • 213P Sensitivity to change of the Motor Function Measure (MFM) in myotonic dystrophy type 1 Ribault S, Rippert P, Bassez G, Duong T, Vuilllero C
  • 214P The 10-meter model: predicting the 6-minute walk test in Pompe disease El Kaim A, Fer F, Hogrel J
  • 219P Enhancing clinical trial eligibility criteria in FSHD: validating whole-body MRI as a key outcome measure
    Widholm P, Karlsson M, Pini J, Puma A, Villa L, Cavali M, Ezaru A, Bassez G, Marty B, Evangelista T, Thomas R, Danjoux L, Tard C, Sacconi S
  • 221P Initial data from the achieve trial of DYNE-101 in adults with myotonic dystrophy type 1 (DM1)
    Wolf D, Lilleker J, Bassez G, Diaz-Manera J, Kools J, Pane M, Roxburgh R, Schoser B, Turner C, Mix C, Ray S, Han B, Farwell W, Sansone V
  • 268P Age and sex affect human skeletal muscle secretome
    Crisol B, Pinzon N, Orio J, Gaut-Serey L, Ohana J, Bensalah M, Peterson C, Butler-Browne G, Mouly V, Bigot A, Trollet C
  • 655P Predictive modelling of dysferlinopathy progression: a longitudinal fat fraction analysis Bolano Diaz C, Wilson I, Hilsden H, James M, Araujo E, Reyngoudt H, Blamire A, Jain COS Consortium, Carlier P, Straub V, Diaz Manera J
  • 702P SEPN1/SELENON-related myopathy depends on the oxidoreductase ERO1A and is druggable with the chemical chaperone TUDCA
    Ferreiro A, Germani S, Tri Van Ho A, Cherubini A, Varone E, Chernorudskiy A, Renna G, Fumagalli S, Bolis M, Rastelli G, Nogara L, Poggio E, Brini M, Cattaneo A, Bachi A, Simmen T, Calì T, Boncompagni S, Blaauw B, Zito E

 

Poster session 2 (mercredi 9 octobre – 17h15-18h15)

  • 04P Characterising patient iPSC-derived models of RYR1-related myopathies
    Crane J, Clayton J, Vo C, Driver K, Malfatti E, Romero N5 Laing N, Ravenscroft G, Taylor R
  • 10P Characterization of the severe phenotype of COL6-related dystrophy due to the recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T
    Foley A, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, Mohassel P, Zhou H, Aguti S, Jimenez-Mallebrera C, Lamandé S, Allamand V, Gualandi F, Ferlini A, Wilton S, Wagener R1, Bertini E1, Muntoni F, Bönnemann C, The COL6A1 Intron 11 Study Group 
  • 11P Autosomal dominant centronuclear myopathy caused by variants in the DNM2 gene – Results of an international, prospective natural history study
    Braun F, Seferian A, Behin A, Fer F, Peretti M, Duchêne D, Schara-Schmidt U, Annoussamy M, Baets J, Servais L, NatHis-CNM Study Group
  • 14P X-linked myotubular myopathy: 3-year follow-up of a prospective international natural history
    Seferian A, Annoussamy M, Fer F, Lilien C, Gidaro T, Schara-Schmidt U, Braun F, D’Amico A, Daron A, Hernández González A, de Lattre C, Villerot C, Behin A, Arnal J, Mayer M, Bellance R, Davion J, Hogrel J, Servais L, on behalf of NatHis CNM Study Group 
  • 15P Prospective, longitudinal study of the natural history of paediatric patients in France with LAMA2 related dystrophies
    Seferian A, Gasnier E, Peretti M, Duchene D, Lagrue E, Vuillerot C, Walther-Louvier U, Gómez García-de-la-Banda M, Grange A, Carlier R, Reyngoudt H, Marty B, Colella M, Quijano-Roy S
  • 16P Limitation of short-reads NGS sequencing on genomic DNA: interest of functional studies in the diagnosis of congenital Ullrich muscular dystrophy
    Metay C, Ghanem R, Toutain A, Bloch A, Blin E, Jobic V, Pham T, Lejeune E, Buratti J, Keren B, Ader F, Richard P
  • 25P Data trends and highlights from The Global Registry for COL6-related Dystrophies
    McDonald S, Allamand V, Alvarez R, Dziewczapolski G, Boddy H, Deconinck N, Ferré X, McAlister B, Mejat A, Sarkozy A, Copier J, Straub V
  • 32P Investigating myosin dysregulation in X-linked myotubular myopathy
    Rostedt F, Gerlach Melhedegaard E, Zanoteli E, Primiano G, Nishino I, Laporte J, Gineste C, Romero N, Lawlor M, Wallgren-Pettersson C, Laitila J, Ochala J
  • 48P Digging into histological-genetic correlations in MYH2-myopathy: a case series and review of the literature
    Labella B, Brochier G, Beuvin M, Méneret A, Leonard-Louis S, Maisonobe T, Stojkovic T, Métay C, Evangelista T
  • 81P Minimal clinically important differences in Dysferlinopathy from the 10-year, multicenter Jain Clinical Outcome Study
    Gordish-Dressman H, James M, Rufibach L, Hilsden H, Day J, Mendell J, Fernandez-Torron R, Harms M, Pestronk A, Vissing J, Desai U, Yoshimura M, Shin J, Mozaffar T, Stojkovic T, Pegoraro E, Bevilacqua Rivas J, Olive M, Paradas C, COS consortium on behalf of the Jain Foundation, Straub V
  • 87P MRI characterization of the cardiac involvement in LGMD2i/R9
    Fromes Y, Olivier S, Zanfongnon R, Thevenot E, Stojkovic T, Marty B, Reyngoudt H
  • 93P The International Clinical Outcome Study for Dysferlinopathy II: validation of motor outcome measures in a new patient cohort
    Hilsden H, James M, Gordish Dressman H, Rufibach L, Day J, Mendell J, Fernandez Torron R, Harms M, Pestronk A, Vissing J, Desai U, Yoshimura M, Shin J, Mozaffar T, Stojkovic T, Pegoraro E, Bevilacqua Rivas J, Olive M, Paradas C, Straub V
  • 410P GNT0004, Genethon’s AAV8 vector-delivered microdystrophin gene therapy of Duchenne muscular dystrophy, first data of the phase I/II part of the GNT-016-MDYF all-in-one clinical trial in ambulant boys
    Laugel V, De Lucia S, Davion J, Daniele N, Cao F, Sanz M, Buscara L, Blaie S, Thibaut L, Sagot M, Riviere A, Creoff E, Lelait M, Valent A, Perret G, Braun S, Muntoni F
  • 411P Phenotypical differences in 2 immortalized dystrophic cell lines from pediatric patients: a glimpse into pharmacological personalized therapy
    Cappellari O, Quarta R, Cristiano E, Boccanegra B, Cerchiara A, Marinelli M, Barile S, Mouly V, Lasorsa M, Imbrici P, De Luca A
  • 480P Comparative analysis of CRISPR/Cas9-targeted Nanopore long-read sequencing approaches in repeat expansion disorders
    Bonne G, Benarroch L, Boëlle P, Labrèche K, Madry H, Mohand-Oumoussa B, Eura N, Nishino I, Gourdon G, Tomé S
  • 481P Acute respiratory failure revealing DNAJB4 myopathy: a case report
    Chitimus D, Adam C, Cauquil C, Amthor S, Heming N, Annane D, Keren B, Nicolas G, Laforêt P, Metay C, Lefeuvre C
  • 581P Toxic autophagic vacuolar myopathies and the role of human leukocyte antigen class I molecules and membrane attack complex in its pathogenesis
    Labella B, Lacene E, Chanut A, Leonard-Louis S, Benveniste O, Lefeuvre C, Lafôret P, Evangelista T
  • 587P White matter lesions and genetic muscular diseases: an overview
    Jaubert P, Mario G, Stojkovic T, Masingue M
  • 588P Phenotype variability and natural history of X-linked Myopathy with excessive autophagy running head: natural history of XMEA
    Fernández-Eulate G, Alfieri G, Spinazzi M, Ackermann-Bonan I, Duval F, Solé G, Caillon F, Mercier S, Pereon Y, Magot A, Pegat A, Salort-Campana E, Gorokhova S, Krahn M, Biancalana V, Evangelista T, Behin A, Metay C, Stojkovic T
  • 591P DNA damage in LMNA-related congenital muscular dystrophy
    Leconte M, Guesmia Z, Bonne G, Bertrand A
  • 594P FUS/TLS as a potential regulator of PABPN1 in skeletal muscle?
    Mouigni H, Altin N, Ohana J, Kondili M, Dhiab J, Muraine L, Lemaitre M, Meunier P, Butler-Browne G, Mouly V, Bigot A, Negroni E, Trollet C

 

Poster session 3 (vendredi 11 octobre – 14h15-15h15)

  • 70P Defining the landscape of TIA1 and SQSTM1 Digenic Myopathy
    Fernández-eulate G, Panos-Basterra P, Theuriet J, Nadaj-Pakleza A, Magot A, Lannes BMarcorelles P, Behin A, Masingue M, Caillon F, Malek Y, Fenouil T, Bas J, Menassa R, Michel-Calemard L, Streichenberger N, Simon J, Bouhour F, Evangelista T, Métay C, Pegat A, Stojkovic T
  • 74P Update on GNE-myopathy: introduction of tissue and blood biomarkers and a novel homozygous missense variant associated with early disease onset and proximal involvement
    Roos A, Dobelmann V, Hentschel A, Hagenacker T, Derksen A, Osmanovic A, Evangelista T, Gangfuss A, Kaiser F, Schara-Schmidt U, Ruck T, Savarese M, Lochmüller H
  • 187P French HCPs approach to evaluating SMA adult patients with severe disabilities: a qualitative study
    Laforêt P, Montagu G, Boyer F, Gargiulo M, Pouplin S, Barrière A, Berling E, Bonnyaud CCintas P, Hogrel J, Le Goff L, Marchadier B, N’Dah Sékou G, Orlikowski D, Prigent H, Ropars J, Salort-Campana E, Stojkovic T, Attarian S
  • 255P Relevance of muscle biopsies in the neonatal period: a 52-year retrospective study in the gene-sequencing era
    Bui M, Fernández-Eulate G, Evangelista T, Lacène E, Brochier G, Labasse C, Madelaine A, Chanut A, Beuvin M, Borsato-Levy F, Biancalana V, Barcia G, De Lonlay P, Laporte J, Bohm J, Romero N
  • 261P Insights into Facioscapulohumeral dystrophy in African individuals: clinical and molecular findings from a collaborative study
    Rodriguez Cruz P, Diagne R, Henning F, Naidu K, Heckmann J, Floudiotis N, Malfatti E, Kamissoko Y, Leturcq F, Urtizberea A, Tellez M, Elsheikh B, Beltran S, Diop A, Ndiaye M, Hodes R, Voermans N, Van der Vliet P, Van der Maarel S, Lemmers R
  • 440P Nonclinical data for PGN-EDODM1 demonstrated nuclear delivery, mechanistic and meaningful activity for the potential treatment of DM1
    Gilbert J, Klein A, Lonkar P, Gutnick A, Foy J, Yu S, Reid T, Sarkar K, Cleary J, Berglund J, Furling D, Holland A
  • 457P Mortality rate and predictors of death in the DM1 population, a registry-based study
    Bassez G, Kachal A, Gyenge M, Hamroun D, French Myotonic Dystrophy Study Group
  • 458P The iDM-Scope Registry: an innovative France-Canada framework to advance Myotonic Dystrophy translational research
    Bassez G, Gyenge M, Hamroun D, Kachal A, Evangelista T, Rodrigue X, Nury M, Lochmüller H, Gagnon C
  • 607P A patient-centered registry for rare neuromuscular disorders with federated FAIR infrastructure: the EURO-NMD Registry Hub
    Atalaia A, Wandrei D, Lalout N, Tassoni A, A. C. ’t Hoen P, Athanasiou D, D’Angelo C, Mancuso M, Kornblum C, Kirschner J, Pareyson D, Bassez G, Lamy F, de Visser M, Silani V, Vroom E, D. Wilkinson M, Lochmuller H, Evangelista T, ERN EURO-NMD Registry Consortium

 

Poster session 4 (vendredi 11 octobre – 15h45-16h45)

  • 152P Perceived effects of treatments by SMA adult patients: a French qualitative study
    Laforêt P, Montagu G, Boyer F, Gargiulo M, Pouplin S, Barrière A, Berling E, Bonnyaud CCintas P, Hogrel J, Le Goff L, Marchadier B, N’Dah Sékou G, Orlikowski D, Prigent H, Ropars J, Salort-Campana E, Stojkovic T, Attarian S
  • 170P Apitegromab in Spinal Muscular Atrophy: baseline characteristics of participants enrolled in the phase 3 SAPPHIRE study
    Crawford T, Servais L, Krueger J, Kölbel H, Gomez Garcia M, Cances C, Kuntz N, Finkel R, Yao B, Zhao G, Marantz J, Darras B, Mercuri E
  • 172P FUS protein expression in the myopathology of 5q-associated Spinal Muscular Atrophy type 3
    Kölbel H, Dobelman V, van Haute L, Lancene E, Kollipara L, Della Marina A, Horvath R, Schara-Schmidt U, Ruck T, Schoser B, Evangelista T, Roos A
  • 177P Effect of gene therapy on the epigenetic and transcriptional stability of SMA Smeriglio P, Grandi F, Arnould A, Pezet S, Marais T, Mazzucchi S, Astord S, Cohen-Tannoudji M
  • 178P Spinal muscular atrophy type II skeletal muscle treated with Nusinersen and Risdiplam shows SMN restoration but mitochondrial deficiency
    Grandi F, Astord S, Pezet S, Gidaja E, Mazzucchi S, Chapart M, Vasseur S, Mamchaoui K, Smeriglio P
  • 234P Congenital Myasthenic Syndromes in adults: clinical features, diagnosis and long-term prognosis
    Theuriet J, Villar-Quiles R, Stojkovic T, Eymard B
  • 325P Is upper extremity contracture progression related to changes in upper extremity function in Duchenne Muscular Dystrophy? An international multicenter natural history study
    Van Der Holst M, Italianer M, Wolfe A, Chesshyre M, Voit T, Straub V, de Lucia S, Servais L, Hogrel J, Pelsma M, de Groot I, Houwen S, Muntoni F, Niks E
  • 525P Management of seizures in patients with Primary Mitochondrial Diseases: consensus statement from the inter-ERNs mitochondrial working group
    Mancuso M, Evangelista T, Papadopoulou M, Ng Y, Ardissone A, Bellusci M, Bertini E, Di Vito L, Fons C, Hikmat O, Horvath R, Klopstock T, Kornblum C, Lamperti C, Licchetta L, Molnar M, Varhaug K, O’Callaghan M10, Pressler R, Consortium InterERN group on mitochondrial diseases (ERNs NMD, EYE, RND)
  • 529P Paucisymptomatic late onset Pompe disease: lessons from the clinical, radiological and histopathological long-term follow-up of an untreated patient
    Fernández-eulate G, Caillaud C, Lacene E, Labasse C, Brochier G, Carlier R, Evangelista T, Laforêt P
  • 531P The French Registry of Glycogen Storage Disease Type 3
    Masingue M, Decostre V, Bello M, Do Cao J, Labrune P, Laforêt P

 

Clinical trials updates (samedi 12 octobre – 7h45-8h45)

  • 20O Preliminary results from a Phase 1-2 gene therapy study of ATA-100, AAV9 vector encoding FKRP, in patients with Limb Girdle Muscular Dystrophy R9
    Olivier S, Richard I, Stojkovic T, Straub V, Preisler N, Zanfongnon R, Buscara L, Genries-Ferrand S, Vissing J

 

Late breaking news (samedi 12 octobre – 11h30-13h30)

  • 03LBO Decoy gene therapy for myotonic dystrophy
    Furling D, Arandel L, Sureau A, Cordier A, Moulay G, Rouxel C, Klein A