Study elucidates how microvascular complications develop in patients with SMA

New data presented at WMS 2022 have provided insights into the underlying pathology of microvascular complications in patients with spinal muscular atrophy (SMA).

In a series of studies, researchers in the UK identified a retinal vascular defect in patients with SMA that could be reproduced in transgenic mice. The defect is caused by impairments in angiogenesis and vessel maturation. Notably, exposure to SMN restoration antisense oligonucleotide therapy reversed the phenotype in a mouse model.