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

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.