Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting

Federica Viti*, Roberto De Giorgio, Isabella Ceccherini, Arti Ahluwalia, Maria M. Alves, Chiara Baldo, Giannina Baldussi, Elena Bonora, Osvaldo Borrelli, Luigi Dall’Oglio, Paolo De Coppi, Carlotta De Filippo, Pascal de Santa Barbara, Antonella Diamanti, Carlo Di Lorenzo, Ruggero Di Maulo, Antonio Galeone, Paolo Gandullia, Sohaib K. Hashmi, Florence LacailleLaurence Lancon, Salvatore Leone, Maxime M. Mahé, Maria Judit Molnar, Alessandro Palmitelli, Silvia Perin, Alessio Pini Prato, Nikhil Thapar, Massimo Vassalli, Robert O. Heuckeroth

*Corresponding author for this work

Research output: Contribution to journalReview articlePopular

2 Citations (Scopus)
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Visceral myopathy is a rare, life-threatening disease linked to identified genetic mutations in 60% of cases. Mostly due to the dearth of knowledge regarding its pathogenesis, effective treatments are lacking. The disease is most commonly diagnosed in children with recurrent or persistent disabling episodes of functional intestinal obstruction, which can be life threatening, often requiring long-term parenteral or specialized enteral nutritional support. Although these interventions are undisputedly life-saving as they allow affected individuals to avoid malnutrition and related complications, they also seriously compromise their quality of life and can carry the risk of sepsis and thrombosis. Animal models for visceral myopathy, which could be crucial for advancing the scientific knowledge of this condition, are scarce. Clearly, a collaborative network is needed to develop research plans to clarify genotype–phenotype correlations and unravel molecular mechanisms to provide targeted therapeutic strategies. This paper represents a summary report of the first ‘European Forum on Visceral Myopathy’. This forum was attended by an international interdisciplinary working group that met to better understand visceral myopathy and foster interaction among scientists actively involved in the field and clinicians who specialize in care of people with visceral myopathy. Graphical Abstract: [Figure not available: see fulltext.]

Original languageEnglish
Pages (from-to)3857-3871
Number of pages15
JournalDigestive Diseases and Sciences
Issue number10
Early online date31 Aug 2023
Publication statusPublished - Oct 2023

Bibliographical note

Funding Information:
The European Forum on Visceral Myopathy (EFVM 2022) was funded by the European Joint Programme for Rare Diseases—Networking Support Scheme—Round 3, and by ‘POIC e dintorni’ patient advocacy organization ( ). ROH is supported by the Irma and Norman Braman Endowment, the Suzi and Scott Lustgarten Center Endowment, NIH R01 DK128282, and The Children’s Hospital of Philadelphia Frontier Program Center for Precision Diagnosis and Therapy for Pediatric Motility Disorders.

Publisher Copyright:
© 2023, The Author(s).


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