Spinal muscular atrophy (SMA), a debilitating genetic condition, has long been fatal by age two. However, a new case study suggests a simple treatment may improve outcomes. The condition is caused by mutations in the SMN1 gene, leading to muscle wasting and nerve damage.
An oral drug called risdiplam was administered before birth for the first time as part of a trial. The mother took the drug daily during pregnancy, while the baby received it from one week old and will likely need to take it forever.
Results show improved survival rates and motor function in the child. Higher levels of SMN protein were detected, and nerve damage was significantly reduced. After 30 months, the child developed normally with no muscle atrophy. The study’s success lays groundwork for larger-scale studies to investigate prenatal intervention for SMA.
Source: https://newatlas.com/disease/spinal-muscular-atrophy-infant-treated-in-utero