Le 28ème congrès international de la World Muscle Society (WMS) se tiendra du 3 au 7 octobre 2023 à Charleston aux Etats-Unis. L’Institut de Myologie y sera très bien représenté, tant sur le plan de la recherche clinique que fondamentale.
Dr Teresinha Evangelista (CEEN), Mariko Okudo (CRM) et Marta Gomez Garcia (I-Motion Pédiatrique) y présenteront des communications orales.
Gisèle Bonne (CRM), Louise Benarroch (CRM), Jean-Yves Hogrel (CEEN) et Riyad El- Khoury (CEEN / Généthon) assureront le rôle de modérateurs de sessions.
28 posters des chercheurs et cliniciens de l’Institut seront présentés durant le congrès.
Interventions
Mercredi 4 octobre
- Gisèle Bonne – co-modératrice de la session : Understanding phenotypic and genetic diversity in neuromuscular disorders 2
- Mariko Okubo – speaker : « In vivo gene therapy for striated muscle laminopathy »
- Teresinha Evangelista – intervenante lors du débat : Is the muscle biopsy still indicated?
Jeudi 5 octobre
- Louise Benarroch – co-modératrice de la session Pathobiology of neuromuscular expansion disorders 1
Vendredi 6 octobre
- Jean-Yves Hogrel – co-modérateur de la session The effect of lifestyle, exercise and nutrition on neuromuscular pathology and outcomes 1
- Riyad El-Khoury – co-modérateur de la session Interesting Case Discussion
Samedi 7 octobre
Poster Highlights
Moderators: Alan Beggs, Boston Childrens Hospital / Harvard Medical School, USA & Svetlana Gorokhova, National
Institute of Health, USA
O22: Présentation orale – poster « highlight »:
Marta Gomez Garcia, I-Motion Institut de Myologie, APHP Raymond Poincare University Hospital, Child Neurology and Paediatric ICU Department Pediatrique, France
P81 Gastrointestinal assessment in Spinal Muscular Atrophy (SMA): the experience of SMA healthcare
professionals in France
Posters
P24 – Safety and tolerability of Eteplirsen in patients 6–48 Months old with DMD amenable to exon 51 skipping: an open-label extension study – Mercuri E, Seferian A, Deconinck N, Orogun L, Ni X, Zhang W, Drummond K, Sehinovych I, Muntoni F
P69 – Scoping review on the assessment tools used on SMA adolescent and adult patients – Hogrel J-Y, Barrière A, Bonnyaud C, Boyer F, Gargiulo M, Li D, Montagu G, Berling E, Cintas P, Le Goff L, Marchadier B, N’Dah Sekou G, Orlikowksi D, Pouplin S, Prigent H, Ropars J, Salort Campana E, Stojkovic T, Attarian S, Laforêt P
P70 – What are the priorities of adolescents and adults with SMA and their health care practitioners toward evaluation? A French qualitative study – Hogrel J-Y , Berling E, Prigent H, Montagu G, Barrière A, Bonnyaud C, Boyer F, Cintas P, Gargiulo M, Le Goff L, Marchadier B, N’Dah Sekou G, Orlikowski D, Pouplin S, Pruvot A, Ropars J, Salort-Campana E, Stojkovic T, Attarian S, Laforêt P
P122 – Longitudinal Dixon Magnetic Resonance Imaging in dysferlinopathy patients can provide a powerful tool in assessing outcomes of therapeutic interventions – Wilson I, Reyngoudt H, Bolano Diaz C, Araujo E, Moore U, Hilsden H, Diaz Manera J, Straub V, Carlier P, Blamire A
P124 – A series of dysferlinopathy patients showing fluctuations in muscle fat fraction and contractile cross-sectional area values (cCSA) over a 3-year follow-up period – Bolaño Diaz C, Wilson I, Borland H, Caldas de Almeida Araujo E, Diaz Manera J, Straub V
P125 –Quantitative MRI in upper limb muscles of patients with dysferlinopathy: 6-months and 12-months longitudinal data from the natural history Jain COS 2 project – Wilson I, Reyngoudt H, Caldas de Almeida Araujo E, Baudin P, Marty B, Bolano-Diaz C, Diaz-Manera J, Rufibach L, Hilsden H, Querin G, Pegoraro E, Mendell J, Stojkovic T, Straub V, Blamire A, Carlier P
P147 – Six-year long-term safety and efficacy of Golodirsen in patients with DMD vs mutationmatched external controls – Muntoni F, Seferian A, Straub V, Guglieri M, Servais L, Wilk-Durakiewicz E, Ni X, Gao P, Hu M, Iff J, Hill L, Sehinovych I, Orogun L, Mercuri E
P149 – Delayed pulmonary progression in Golodirsen-treated patients with Duchenne muscular dystrophy vs mutation-matched external controls – Iff J, Tuttle E, Liu Y, Wei F, Done N, Servais L, Seferian A, Straub V, Guglieri M, Mercuri E, Muntoni F
P156 – Muscle biopsy findings in a large cohort of patients affected by valosin containing protein disease: preliminary analysis of the international multicentric VCP study – Schiava M, Nishino I, Inoue M, Nishimori Y, Saito Y, Polvikoski T, Charlton R, Parkhurst Y, Henderson M, Marini-Bettolo C, Guglieri M, Straub V, Weihl C, Stojkovic T, Villar-Quiles R, Romero N, Evangelista T, Pegoraro E, De Bleecker J, Monforte M, Malfatti E, Souvannanorath S, Severa G, Alonso-Jiménez A, Baets J, De Ridder W, De Jonghe P, Kierdaszuk B, Claeys K, Muelas N, Oldfors A, Rodolico C, Quin C, Dominguez C, Herández Lain A, Pál E, Papadimas G , Kushlaf H, Alfano L, Alonso-Pérez J, Luo S, Badrising U, Bevilacqua J, Nedkova-Hristova V , Cetin H, Gelpi E, Klotz S, Olivé Plana M, Díaz Manera – On behalf of VCP International Study Group
P158 – Heterozygous SPTAN1 frameshift mutations cause distal myopathy with neurogenic features – De Winter J, Van de Vondel L, Bonne G, Stojkovic T, Elouej S, Grandi F, Smeriglio P, Palmio J , Johari M, Hackman P, Savarese M, Udd B, Meyer A, Nicolau S, Flanigan K1, Waldrop M1, Lognman C, Diaz-Manera J, Töpf A, Baets J
P161 – Natural history of distal and myofibrillar myopathies assessed by clinical and technological outcome
measures (Dista-Myo): baseline results – Bortolani S, Torchia E, Vicino A, Cheli M, Rabuffetti M, Marzegan A, Monforte M, Ricci E, Hogrel JY, Sacconi S, Maggi L,Tasca G
P166 – Deciphering the genetic cause of Oculopharyngodistal myopathy in a French cohort using Cas9- targeted long-read sequencing – Benarroch L, Nelson I, Stojkovic T, Mohand Oumoussa B, Madry H, Boelle P, Labreche K, Tomé S, Trollet C, Bonne G
P192 – The open-access treatabolome platform enhances the visibility of treatable and actionable genes in RD-connect’s GPAP and other clinical diagnosis support tools – Atalaia A, Thompson R, Matalonga L, Hernandez-Ferrer C, Corvo A, Carmody L, Zurek B, Ben Yaou R, Horvath R, Graessner H, Riess O, Robinson P, Lochmuller H, Beltran S, Bonne G
P203 – Proven interoperability of five neuromuscular rare disease registries – ‘t Hoen P, Lalout N, Vroom E, Franken M, Jäger D, Tassoni A, Kampowski T, Delattre H, Hamroun D, Molthof R, de Jong I, Quemada E, Atalaia A, Evangelista T, Wilkinson M, EURO-NMD registry consortium
P281 – Quality of life in adults with dysferlinopathy: international clinical outcome study of dysferlinopathy – Hilsden H, James M, Gordish Dressman 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, Straub V, Mayhew A
P283 – Natural history of limb girdle muscular dystrophy R9: one-year follow-up of a European cohort – Vissing J, Stojkovic T, Straub V, Preisler N, Holm-Yildiz S, Rudolf K, Querin G, Hogrel JY, Birnbaum S, James M, Ghimenton E,
Verma M, Richard I, Granier M, Degove S, Olivier S
P305 – The first standards of care guidelines for a limb girdle muscular dystrophy – James M, Moore U, Fernandez Eulate G, Mayhew A, Straub V
P336 – Refining the clinical and therapeutic spectrum of granulomatous myositis from a large cohort of patients – Lauletta A, De le Hoye L, Léonard-Louis S, Garibaldi M, Allenbach Y, Benveniste O
P338 – Clinical, morphological, and proteomic features of patients suspected of X-linked myopathy with excessive autophagy (XMEA) – Merlet A, Lacène E, Nelson I, Brochier G, Labasse C, Chanut A, Madelaine A, Beuvin M, Bonne G, Féasson L, Minot M, Noury J, Fradin M, Fernández-Eulate G, Behin A, Stojkovic T, Hentschel A, Marcorelles P, Roos A, Evangelista T
P342 – An early onset benign myopathy with glycogen storage caused by a de novo 1.3 microdeletion of chromosome 14 – Severa G, Fiorillo C, Scala M, Taglietti V, Cojocaru A, Tachdjian G, Jouni D, Tosca L, Authier F, Carlier R, Verebi C, Metay C, Malfatti E
P351 – Rhabdomyolysis and muscle biopsy outcomes: a single center retrospective cohort – Ferreira W, Massaro C, Masingue M, De Lonlay P, Laforet P, Behin A, Eymard B, Choumert A, Mafatti E, Stojkovic T, Allenbach Y, Bassez G, Evangelista T
P387 – Initiation and follow-up of mexiletine treatment in adult myotonic dystrophy patients: an expert opinion – Wahbi K, Bassez G, Duchateau J, Salort-Campana E, Vicart S, Labombarda F, Sellal J, Deharo J
P390 – PGN-EDODM1 nonclinical data demonstrate mechanistic and meaningful activity for potential treatment of myotonic dystrophy type 1 (DM1) – Holland A, Klein A, Lonkar P, Svenstrup N, Garg B, Foy J, Furling D, Goyal J
P395 – Recommendations of an expert group for cardiac assessment of non-dystrophic myotonic adult patients treated with mexiletine – Vicart S, Wahbi K, Duchateau J, Sellal J, Deharo J, Bassez G, Salort-Campana E, Labombarda F
P422 – Validation of myo-converted fibroblasts as a relevant model to study chromatin organization defects in striated muscle laminopathies – Benarroch L, Madsen-Østerbye J, Abdelhalim M, Mamchaoui K, Ohana J, Bigot A, Mouly V, Bertrand A, Collas P, Bonne G
P424 – Identify genetic modifiers controlling severity of collagen-6 related dystrophies (COL6-RD) – Bisciglia M, Stojkovic T, Nascimento A, Vissing J, Castiglioni C, Claeys K, Remiche G, De Paepe B, Butterfield R, Deconinck N
VP429 (Virtual Poster) – Impaired skeletal muscle strength in adult patients with laminopathies – Decostre V, Chikhaoui C, Vigouroux C, Behin A, Bassez G, Ferreiro A, Janmaat S, Masingue M, Stojkovic T, Vatier C, Villar Quiles R, Quijano Roy S, Wahbi K, Eymard B, Bonne G, Ben Yaou R, Hogrel J-Y
P438 – Multimodal evaluation of the effect of salbutamol on walking capacity in ambulatory individuals with ALS: insights from the phase 2 WALKALS study – Querin G, Birnbaum S, Marty B, Reyngoudt H, Hogrel JY, Pradat PF
Late Breaking
LBP09 Missense variant in TARDBP results in a novel distal myopathy
Johari M, Stojkovic T, Ghorab K, Eymard B, Udd B
Télécharger le programme complet du congrès WMS 2023
