Les experts de l’Institut au congrès de la WMS 2025

12 septembre 2025

Le 30ème congrès international de la World Muscle Society (WMS) se tiendra du 7 au 11 octobre 2025 à Vienne en Autriche. L’Institut de Myologie y sera très bien représenté avec de nombreux experts scientifiques et cliniques présents pour évoquer leurs travaux de recherche clinique et fondamentale.

Sabrina Sayah (équipe Psychologie et neuropsychologie) y présentera une communication orale

Ana Ferreiro (Service de Neuro-Myologie) assurera le rôle de modératrice de session.

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

 

Interventions

Jeudi 9 octobre 2025 

  • Ana Ferreiro – co-modératrice de la session : Interesting Case Discussions
  • Sabrina Sayah – oratrice dans la session « Multidisciplinary management of neuromuscular diseases » – Psychological care in neuromuscular diseases: supporting patients with rare, progressive, and genetic diseases in the era of gene therapy

 

Télécharger le programme complet du congrès

 

En savoir plus sur le congrès WMS 2025

 

Liste des posters des chercheurs et cliniciens de l’Institut

  • 36P Understanding muscle biopsy pain: what to expect during and after – Labella B, Brochier G, Beuvin M, Chanut A, Lacene E, Labasse C, Madelaine A, Levy-Borsato F, Leonard-Louis S, Bassez G, Seilhean D, Evangelista T
  • 191P Comprehensive analysis of longitudinal SV95C measurements, an e-digital mobility assessment in a real-life DMD population in the GNT-014-MDYF natural history study – Montier T, De Lucia S, Davion J, Espil C, Guglieri M, Chabrol B, Le Goff L, Seferian A, Perret G, Guemas E, Valent A, Cao F, Laugel V, Muntoni F
  • 404P First clinical trial in SELENON-related myopathy: analysis of the phase II-III pilot SELNAC study – Villar Quiles R, Behin A, Prigent H, Gassama M, Ait Younes N, Quijano Roy S, Amthor S, Grimaldi L, Pincemail J, David O, Estournet B, Ferreiro A
  • 405P Video-based digital endpoints for the home monitoring of patients with neuromuscular diseases – Hogrel J, Marques T, Santmarty P, Decostre V, Drummond E, Muni Lofra R, Straub V, DT4RD Consortium
  • 426P Efficacy and safety of apitegromab in patients aged 13-21 years with type 2 or 3 spinal muscular atrophy: outcomes from the SAPPHIRE phase 3 trial – Seferian A, Crawford T Servais L, Mercuri E, Krueger J, Kölbel H, Cances C, Kuntz N, Finkel R, Yao B, Rossello J, Tirucherai G, Zhao G, Song G, Marantz J, Darras B
  • 428P Gait analysis with trunk accelerometry in patients from the French registry of glycogen storage disease type III: implications for clinical trials – Hogrel J, Fer F, Ledoux I, Petit F, Bello M, Labrune P, Wahbi K, Habes D, Gardin A, Masingue M, Laforêt P, Decostre V
  • 657P Lysosomal damage in Duchenne muscular dystrophy: an emerging therapeutic target – Jaber A, Palmieri L, Bakour R, Lachiver E, Vu Hong A, Bourg N, Pupiot J, Albini S, Stokholm D, Van Wittenberghe L, Miranda A, Daniele N, Barthélèmy I, Blot S, Thao Bui M, Evangelista T, Richard I, Israeli D
  • 665P GDF5 therapeutic potential for Duchenne muscular dystrophy – Pietri Rouxel F, Gentil C, Bourguiba A, Vergnol A, Cadot B, Guesmia Z, Saillard L, Meunier P, Falcone S, Giordani L
  • 130P Role of dynamin 2 and clathrin-coated plaques in muscle mechanotransduction via YAP/TAZ regulation – Benoist M, Milliet K, Franck A, Moparthi S, Fongy A, Moulay G, Lacene E, Mamchaoui K, Chardonnet S, Dingli F, Loew D, Evangelista T, Coirault C, Trochet D, Bitoun M, Vassilopoulos S
  • 142P Phenotypical and genotypical characterization of a cohort of 196 COL6-RD patients in Europe and Chile – Bisciglia M, Stojkovic T, Metay C, Allamand V, Natera-de Benito D, Nascimento A, Claeys K, Castiglioni C, Suarez B, Vissing J, De Paepe B, De Bleecker J, Lieveke A, Butterfield R, Deconinck N 
  • 143P Generation and characterization of Col6a1 knock-in mice: a promising pre-clinical model for collagen VI-related dystrophies – Jimenez-Mallebrera C, López-Márquez A, Badosa C, Sánchez-Martín M, Cadot B, Guesmia Z, Georvasilis I, Balsells S, Quintana A, Roldán M, Allamand V, Jimenez-Mallebrera C
  • 163P Transcriptomic profiling reveals shared pathogenic pathways and novel biomarkers across centronuclear myopathies – De Feraudy Y, Swain S, Simon A, Bouman K, Voermans N, Vasseur S, Romero N, Nishino I, Saito Y, Lawlor M, Streichenberger N, Jungbluth H, Bertini E, D’Amico A, Oldfors A, Malfatti E, Evangelista T, Böhm J, Biancalana V, Laporte J
  • 199P Natural history of muscle volume and muscle fat content biomarkers in FSHD based on whole-body fat-referenced MRI – Karlsson M, Widholm P, Puma A, Villa L, Cavali M, Pini J, Ezaru A, Marty B, Evangelista T, Thomas R, Danjoux L, Sacconi S
  • 200P Quantitative whole-body MRI biomarker relation to muscle strength & function in FSHD patients – Foltz M, 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
  • 209P An updated international standard of care for facioscapulohumeral muscular dystrophy – Voermans N, Kinoshita J, Evangelista T, Badiani R, Honda M, Statland J
  • 211P Associations between muscle strength and MRI biomarkers in FSHD: toward imaging-based functional classification – Widholm P, Foltz M, 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
  • 319P Sexual health impairments in neuromuscular diseases: a scoping review – El Kaim A, Banos M, Birnbaum S, Hogrel J, Gargiulo M
  • 448P Congenital core myopathy linked to SOX5: Expanding the phenotypical spectrum of Lamb-Shaffer syndrome – Städler K, Gerasimenko A, Nava C, Heron D, Schaerer E, Gitiaux C, Authier F, Stojkovic T, Malfatti E, Villar-Quiles R
  • 488P Role of a secreted metalloprotease in LGMDR2 pathophysiology – Bouragba D, Bensalah M, Ohana J, Negroni E, Altin N, Kondili M, Butler-Browne G, Trollet C, Mouly V, Bigot A
  • 558P Differential diagnosis in dysphagia: a histopathological study of the cricopharyngeal muscle – Labella B, Lacene E, Chanut A, Beuvin M, Labasse C, Madelaine A, Brochier G, Stojkovic T, Eymard B, Lacau Saint Guily J, Evangelista T
  • 565P International multicentre registry-based study on effect of LMNA mutations’ spatial distribution on cardiac outcomes in laminopathies – Benyaou R, Bhaskaran A, Helms A, Fayssoil A, Richard P, Stojkovic T, Anselme F, Labombarda F, Chikhaoui C, De Sandra-Giovannoli A, Leturcq F, Vigouroux C, Dembele M, Elliott P, Zeppenfeld K, Charron P, Kumar S, Lakdawala N, Bonne G, Wahbi K
  • 56P 3D human iPSC-based modelling of laminopathies to develop gene therapy strategies for LMNA-related congenital muscular dystrophy – Moore D, Rossi L, Aghaeipour Dehkaei A, Carraro E, Steele-Stallard H, Tsz Yan Wong C, Lionello V, Choi S, Pinton L, Jalal S, Cuisset J, Bonne G, Serio A, Zammit P, Tedesco F
  • 59P Uncovering therapeutic leads for SELENON-related congenital myopathy: a large-scale drug screen using patient-derived primary myoblasts – Ho A, Quijano-Roy S, Ferreiro A
  • 67P Mexiletine Paediatric Investigation Plan, PIP4 study: safety, pharmacokinetic and efficacy findings in children with myotonia – Barnérias C, Isapof A, Hogrel J, Pentikis H, Adetoro N, Zozulya Weidenfeller A
  • 84P Autologous myoblast transplantation combined with cricopharyngeal myotomy for oculopharyngeal muscular dystrophy: long-term results of 24 patients and comparison with cricopharyngeal myotomy alone – Trollet C, Marhic A, Fer F, Brechenmacher M, Negroni E, Butler-Browne G, Mouly V, Marolleau J, Larghero J, Perie S, Lacau St Guily J
  • 87P Results from a dose escalation gene therapy study of ATA-100, AAV9 vector encoding FKRP, in patients with limb girdle muscular dystrophy R9 – Vissing J, Richard I, Stojkovic T, Straub V, Preisler N, Zanfongnon R, Degove S, Buscara L, Genries-Ferrand S, Olivier S
  • 108P RYR1 expression in the myogenesis of normal and dystrophic muscles – Zogbi I, Souza B, Souza L, Feitosa L, Bigot A, Mouly V, Vainzof M
  • 281P Investigation of genotype-phenotype correlation in 2D cell models of Duchenne muscular dystrophy patients shows mutation-dependent defects in mitochondrial respiration and delay in myogenic program – Marinelli M, Cristiano E, Quarta R, Boccanegra B, Cerchiara A, Barile S, Mouly V, Lasorsa F, Imbrici P, Cappellari O, De Luca A
  • 287P 3D tissue engineered skeletal muscle to model dystrophinopathies and determine the efficacy of exon skip therapies – Timp L, Franken M, Gonçalves M, Goyenvalle A, Bigot A, Mouly V, Pijnappel P, de Greef J, van der Maarel S, Niks E, Goossens, R, Aartsma-Rus A
  • 374P New conditional mouse model for myotonic dystrophy expressing the human DMPK gene carrying large CTG expansions in striated muscles – Furling D, Sureau A, Arandel L, Cordier A, Rouxel C, Huguet A, Megali P, Lemaitre M, Mougenot N, Rau F, Klein A, Muchir A, Gourdon G
  • 376P Aligning research and patient perspectives in myotonic dystrophy type 1: a comparative analysis using data from the DM-scope registry – Gyenge M, Brechenmacher M, Fer F, Hamroun D, Geille A, Bassez G, Filnemus Myotonic Dystrophy Study Group
  • 377P CoreDMScope_ENSA (RevEal the burdeN in daily life in myotonic dyStrophy due to myotoniA): study design compares patient-reported and clinical outcomes – Gyenge M, Bassez G, Ellafi R, Zozulya Weidenfeller A, Dufresne R, Filnemus Myotonic Dystrophy Study Group
  • 80P DYNE-101 targets the underlying cause of DM1 to enable multi-system functional improvement in the ACHIEVE trial – Kerr D, Sansone V, Bassez G, Diaz-Manera J, Mul K, Lilleker J, Pane M, Roxburgh R, Schoser B, Turner C, Ray S, Chen H, Andersson S
  • 396P Development of a sensor-system to regulate gene expression: application to decoy gene therapy for myotonic dystrophy – Arandel L, Sureau A, Cordier A, Ronquillo K, Muchir A, Moulay G, Klein A, Gourdon G, Furling D
  • 397P Metabolic and myogenic defects as a therapeutic target in type 1 myotonic dystrophy (DM1) – Lessard L, Ben Larbi, Weiss-Gayet M, Courchet J, Furling D, Gallay L, Mounier R
  • 541P The global registry for 541P COL6-related dystrophies: insights from over 350 international participants – Mcdonald S, Allamand V, Alvarez R, Boddy H, Copier J, Deconinck N, Dziewczapolski G, Ferré X, McAlister B, Mejat A, Sarkozy A, Straub V
  • 606P Real-world experience with nusinersen in adults with 5q spinal muscular atrophy: the French SMA registry – Tard C, Grimaldi L, Urtizberea A, Laforêt P, Cintas P, Salort-Campana E, Attarian S, Nkam L, Malfatti E, De La Cruz E, Quijano-Roy S, Stojkovic T
  • 331P Causes of death in adult patients with late-onset Pompe disease: a French Pompe registry retrospective study – Chitimus D, Tard C, Fournier M, Bouhour F, Béhin A, Salort-Campana E, Lagrange E, Solé G, Spinazzi M, Kaminsky A, Magot A, Beltran S, Noury J, Magy L, Renard D, Lefeuvre C, Attarian S, Hamroun D, Laforet P
  • 343P Development of a standardized toolbox for autophagy research in neuromuscular disorders within the DREAMS project – Lemerle E, Moparthi S, Forand A, Miagoux Q, Evangelista T, Muchir A, Nissan X, Vassilopoulos S
  • 464P Nuclear envelope proteins in sub-synaptic gene regulation: mechanisms and disease implications – Godard-Bauche S, Douarre C, Peccate C, Euchparmakian M, Nasr J, Lemaitre M, Ferrer E, Cadot B, Muchir A
  • 577P Multisystemic factors from muscle and liver affect bone health in spinal muscular atrophy type II patients and a mouse model – Grandi F, Pezet S, Arnould A, Mazzucchi S, Gidaja E, Astord S, Chapart M, Vasseur S, Ricupero A, Ernu M, Sampaio Y, Cohen-Tannoudji M, Meunier P, Benkhelifa-Ziyyat S, Miladi L, Vialle R, Smeriglio P
  • 580P Organizational, economic and environmental impacts of oral and intrathecal administrations for spinal muscular atrophy treatments in France – Marchadier B, Masingue M, Kaminsky A, Cazin A, Bellier L, Touvron G, Le Lay K, Remer C