Spinal muscular atrophy, known as SMA, has been successfully treated in the womb for the first time. Doctors announced that no signs of the rare genetic disorder were seen in a two-year-old girl after undergoing treatment in utero.

Spinal muscular atrophy is a genetic condition that begins before birth and leads to worsening muscle weakness. There are four types of the disorder, each with different levels of severity. However, children with the most common and severe form typically do not live past the age of two.

While there is no cure that completely eliminates the disease, symptoms can be managed and complications can be prevented. The child’s mother was given risdiplam, the first oral medication approved by the Food and Drug Administration to treat a progressive neurodegenerative disorder. This medication is produced by the Swiss biotechnology company Roche.

FIRST IN UTERO TREATMENT ADMINISTERED St. Jude Children’s Research Hospital researchers pioneered the first in utero treatment. Until now, treatments have been done after birth. Dr. Richard Finkel, Director of the St. Jude Center for Experimental Neurotherapeutics, said, “Our primary goals are feasibility and safety, so we are very pleased to see the parent and child are doing well.”

CARRIER GENE IN THE FAMILY The parents of the patient had a previous child born with Type 1 SMA, and it was known that they carried the genetic variant. Tests confirmed that their child was likely to be born with Type 1 SMA. The idea of administering the medication in utero came from the parents, and doctors gave the mother the medication in the last 6 weeks of her pregnancy. Various abnormalities that were thought to have occurred before exposure to the medication were diagnosed in the baby after birth. The baby started receiving the medication at one week old and is likely to continue taking it for the rest of her life. Approximately one in every 6,000 babies is born with SMA.