How physicians initially addressed a genetic condition in utero

A two-and-a-half-year-old girl is the first person in history to receive treatment for spinal muscular atrophy (SMA) while still in the womb, despite showing no symptoms of the genetic disorder. In late pregnancy, the girl's mother started taking the gene-targeting medication, and the child is still taking it.

This disorder occurs due to mutations in the survival motor neuron gene ( known as “SMN1”), which results in a lack of a protein essential to the spinal cord's motor neurons' survival. This prevents muscles from receiving signals from the brain, causing them to waste away. According to a report in New Atlas, patients with SMA-1, the most severe form, typically only live two to three years and experience a rapid decline in motor skills.

How was prenatal care for SMA?

Risdiplam, an oral medication used to slow the progression of SMA, was used by the researchers as a treatment. The New Atlas report states that the earlier the intervention, the better the outcomes appear to be. Risdiplam is usually administered to a patient shortly after birth. Scientists therefore chose to give the medication prior to birth for the first time in the new trial.

The parents, who had lost a child born with the disease before, came up with the idea to administer the medication in utero, according to Richard Finkel, a clinical neuroscientist at St Jude Children’s Research Hospital (Tennessee), who led the study, as reported by Nature.

The mother took Risdiplam every day for six weeks while she was 32 weeks pregnant. The infant began taking the medication at the age of one week and is likely to keep taking it for the remainder of her life, according to the Nature report.

Compared to people who are typically born with the condition, the girl's blood levels of the SMN protein were higher, the scientists discovered. According to the New Atlas report, the girl "had normal muscle development with no sign of atrophy, and even after 30 months appeared to have lower levels of nerve damage.