Giovanni Baranello

Newborn screening for spinal muscular atrophy (SMA) has changed the diagnostic paradigm for children with the condition, yet delays in implementation are causing inequities within the SMA community. A unified global approach is needed to implement screening and mitigate the barriers in access to high-cost treatments.

Keywords Spinal muscular atrophy Hip displacement Orthopaedic management Disease-modifying therapy Delphi consensus Evidence before this study Hip displacement is a common finding in patients with Spinal Muscular Atrophy (SMA), and with the evolving phenotypes after disease-modifying therapies (DMTs), particularly in children with SMA 1 treated after symptom onset, there is controversy on how to prevent or manage hip dislocation.

Abstract Adeno-associated viruses (AAVs) are common vectors in gene therapy but can frequently cause liver complications in patients. The mechanisms underlying AAV-related liver toxicity remain poorly understood, posing challenges for effective prevention and intervention. Here we conducted a case study of a child with spinal muscular atrophy type 1 experiencing substantial hepatitis after receiving onasemnogene abeparvovec, undertaking long- and short-read metagenomic sequencing of liver tissue.