Italian survey on evolving SMA care with disease-modifying therapies: a consensus workshop on nutrition, swallowing, respiratory and rehabilitation care

Abstract

The landscape of spinal muscular atrophy care is evolving with the emergence of disease-modifying therapies and newborn screening programs, leading to new phenotypes and changing patient needs. This necessitates a reevaluation of existing care recommendations to address new challenges and opportunities in spinal muscular atrophy management. To better evaluate how different areas of care have evolved since the advent of disease-modifying therapies, we focused on highlighting areas where existing practices remain valid, those in which changes are needed and supported by evidence, and those in which further research or experience is required. The initiative brought together experts from the Italian spinal muscular atrophy community, initially involving a survey of care practices and a two-day event with workshops on specific topics. The results of the survey and focus groups provide the experts' opinions of the changing aspects of care for key domains: nutrition and bone health, swallowing, respiratory function, and rehabilitation and management of spine deformities. Suggestions were provided, identifying immediate actionable changes and areas requiring further investigation. This framework represents an initial step towards updating care recommendations in the era of novel therapies. It offers a critical view of the evolving care landscape, balancing established practices with emerging evidence and identifying key areas for future research.

Keywords: Clinical care management; Disease-modifying therapies; Multidisciplinary Care; Spinal muscular atrophy (SMA); Treatment Evolution.