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 Hashmi, Florence Lacaille, Laurence Lancon, S. Leone, Maxime M. Mahé, Mária Judit Molnár, Alessandro Palmitelli, Silvia Perin, Alessio Pini Prato, Nikhil Thapar, Massimo Vassalli, Robert O. Heuckeroth
Abstract
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.