International Forum on Visceral Myopathy 2024: Advances in the Knowledge of the Disease

BACKGROUND: Visceral myopathy (VSCM) is an ultra-rare life-threatening condition characterized by severe impairment of gastrointestinal (GI), genitourinary, and uterine smooth muscle. This disorder represents a significant clinical challenge due to variable presentation and the lack of standardized diagnostic and therapeutic protocols. METHODS: To discuss advances in the field, scientists and clinicians with a special interest in VSCM met in Arenzano, Genova, Italy in October 2024 for the second International Forum on Visceral Myopathy 2024 (IFVM2024) (https://ifvm2024.ge.ibf.cnr.it/). KEY RESULTS: As in the previous edition of the event (https://poic-e-dintorni.org/efvm-2022/), attendees included clinicians and researchers from around the world who study this disease, representatives from support organizations, patients affected by VSCM and their families, and companies that co-funded the event. The present manuscript aims to summarize knowledge shared during the IFVM2024 conference, thus providing an updated state-of-the-art summary of VSCM biology and disease management. CONCLUSIONS: Here, we pay particular attention to the epidemiology of the disease, histopathology, genetics, novel treatments, advances in molecular and cell biology, experimental models, and the lived experiences and impact of this disorder on families.

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Publication Details

Journal
Neurogastroenterology & Motility
Published
2026-04-01
DOI
https://doi.org/10.1111/nmo.70317
Primary Topic
Gastrointestinal motility and disorders
Type
article
Field-Weighted Citation Impact
0.00

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article

International Forum on Visceral Myopathy 2024: Advances in the Knowledge of the Disease

Isabella Ceccherini, Almira Zada, Nikhil Thapar, Antonio Contessa et al.
Neurogastroenterology & Motility
Gastrointestinal motility and disorders
article

International Forum on Visceral Myopathy 2024: Advances in the Knowledge of the Disease

Isabella Ceccherini, Almira Zada, Nikhil Thapar, Antonio Contessa, Raj P. Kapur, Federica Chiappori, Alessio Pini Prato, Sandrine Faure, Renato Tambucci, Jihong Chen, Sharon Wolfson, Jiliang Zhou, Kenton M. Sanders, Massimo Vassalli, Federica Viti, Pieter Vanden Berghe, Antonella Diamanti, Pascal de Santa Barbara, Maria M. Alves, Ludovica Cacopardo, John Rendu, Sabah Sardar, Jan D. Huizinga, Robert O. Heuckeroth, Hayat Mousa, Laurence Lancon, Alessandro Palmitelli, V Stanghellini, Maria Grazia Faticato, Victor Perreaux, Anna Rybak, Carlo Di Lorenzo, Michela Pitto, Cécile Lambe, Arthur Beyder, Ryan McManigal, Rachel Ceron, Roberto De Giorgio, Osvaldo Borrelli, Michael Wangler, Elisa Proietti, Qianqian Wang, Sohaib K. Hashmi
article en

Abstract

BACKGROUND: Visceral myopathy (VSCM) is an ultra-rare life-threatening condition characterized by severe impairment of gastrointestinal (GI), genitourinary, and uterine smooth muscle. This disorder represents a significant clinical challenge due to variable presentation and the lack of standardized diagnostic and therapeutic protocols. METHODS: To discuss advances in the field, scientists and clinicians with a special interest in VSCM met in Arenzano, Genova, Italy in October 2024 for the second International Forum on Visceral Myopathy 2024 (IFVM2024) (https://ifvm2024.ge.ibf.cnr.it/). KEY RESULTS: As in the previous edition of the event (https://poic-e-dintorni.org/efvm-2022/), attendees included clinicians and researchers from around the world who study this disease, representatives from support organizations, patients affected by VSCM and their families, and companies that co-funded the event. The present manuscript aims to summarize knowledge shared during the IFVM2024 conference, thus providing an updated state-of-the-art summary of VSCM biology and disease management. CONCLUSIONS: Here, we pay particular attention to the epidemiology of the disease, histopathology, genetics, novel treatments, advances in molecular and cell biology, experimental models, and the lived experiences and impact of this disorder on families.

Neurogastroenterology & MotilityVol. 38(4)
Centre National de la Recherche Scientifique (FR), Piaggio (Italy) (IT), Nationwide Children's Hospital (US), Food and Agriculture Organization of the United Nations (IT), Mayo Clinic (US), Children's Hospital of Philadelphia (US), University of Nevada, Reno (US), Inserm (FR), Queensland University of Technology (AU), The University of Queensland (AU), California Institute for Regenerative Medicine (US), University of Ferrara (IT), Université Paris Cité (FR), Louisiana State University in Shreveport (US), Great Ormond Street Hospital (GB), Centre Hospitalier Universitaire de Grenoble (FR), Istituto Giannina Gaslini (IT), World Medicine Institute (US), Institut Necker Enfants Malades (FR), Physiologie et Médecine Expérimentale du Coeur et des Muscles (FR), Institute for Stem Cell Biology and Regenerative Medicine (IN), The Enteric Nervous System in Gut and Brain Disorders (FR), Seattle Children's Hospital (US), Construction Technologies Institute (IT), Neurological Research Institute (US), Institut de Recherche en Santé Digestive (FR), Bambino Gesù Children's Hospital (IT), Mayo Clinic in Arizona (US), Erasmus MC - Sophia Children’s Hospital (NL), Mayo Clinic in Florida (US), Grenoble Institute of Neurosciences (FR), National Research Council (IT), Azienda Ospedaliera Nazionale SS. Antonio e Biagio e Cesare Arrigo (IT), Baylor Genetics (US), The Patients Association (GB), Children's Health Queensland Hospital and Health Service (AU), University College London (GB), University of Glasgow (GB), University of Pennsylvania (US), University of Brescia (IT), Louisiana State University Health Sciences Center Shreveport (US), University of Genoa (IT), Université Grenoble Alpes (FR), Padjadjaran University (ID), University of Bologna (IT), KU Leuven (BE)
Children's Hospital of Philadelphia, University of Pennsylvania, Nationwide Children's Hospital, University of Washington, McMaster University, Seattle Children's Research Institute, University of Nevada, Reno, Ospedale Pediatrico Bambino Gesù, University College London, University of Glasgow, Institut National de la Santé et de la Recherche Médicale, Queensland University of Technology, KU Leuven, Consiglio Nazionale delle Ricerche, Università degli Studi di Genova, Centre National de la Recherche Scientifique, Università di Bologna, Università degli Studi di Ferrara, Università di Pisa, Université de Montpellier, Universitas Padjadjaran, School of Medicine, Stanford University, Perelman School of Medicine, University of Pennsylvania, Erasmus Universitair Medisch Centrum Rotterdam, James Watt School of Engineering, University of Glasgow, LSU Health Shreveport
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Gastrointestinal motility and disorders
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